SNP Links for Nucleotide (Select 157649067) - SNP

Links from Nucleotide

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Select item 14909854531.

rs1490985453 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:42412913 (GRCh38)
4:42414930 (GRCh37)
Canonical SPDI:: NC_000004.12:42412912:C:G
Gene:: ATP8A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.42412913C>G, NC_000004.11:g.42414930C>G, XM_011513616.3:c.*3G>C, XM_011513616.2:c.*3G>C, XM_011513616.1:c.*3G>C, XM_011513615.2:c.*3G>C, XM_011513615.1:c.*3G>C, NM_006095.2:c.*3G>C, NM_001400024.1:c.*3G>C, XM_047449508.1:c.*3G>C, NM_001400025.1:c.*3G>C, NM_001400026.1:c.*3G>C, NM_001105529.1:c.*3G>C, NM_001400027.1:c.*3G>C, XM_047449509.1:c.*3G>C

Select item 14908289432.

rs1490828943 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:42656891 (GRCh38)
4:42658908 (GRCh37)
Canonical SPDI:: NC_000004.12:42656890:G:A
Gene:: ATP8A1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.42656891G>A, NC_000004.11:g.42658908G>A, XM_011513616.3:c.-18C>T, XM_011513616.2:c.-18C>T, XM_011513616.1:c.-18C>T, XM_011513615.2:c.-18C>T, XM_011513615.1:c.-18C>T, NM_006095.2:c.-18C>T, NM_001400024.1:c.-18C>T, XM_047449508.1:c.-18C>T, NM_001400025.1:c.-18C>T, NM_001400026.1:c.-18C>T, NM_001105529.1:c.-18C>T, NM_001400027.1:c.-436C>T, XM_047449510.1:c.-18C>T, XM_047449511.1:c.-18C>T

Select item 14907033063.

rs1490703306 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:42578307 (GRCh38)
4:42580324 (GRCh37)
Canonical SPDI:: NC_000004.12:42578306:C:T
Gene:: ATP8A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.42578307C>T, NC_000004.11:g.42580324C>T, XM_011513616.3:c.1081G>A, XM_011513616.2:c.1081G>A, XM_011513616.1:c.1081G>A, XM_011513615.2:c.1081G>A, XM_011513615.1:c.1081G>A, NM_006095.2:c.1081G>A, NM_001400024.1:c.1081G>A, XM_047449508.1:c.1081G>A, NM_001400025.1:c.1081G>A, NM_001400026.1:c.1081G>A, NM_001105529.1:c.1081G>A, NM_001400027.1:c.589G>A, XM_047449509.1:c.589G>A, XM_047449510.1:c.1081G>A, XM_047449511.1:c.1081G>A, XP_011511918.1:p.Val361Ile, XP_011511917.1:p.Val361Ile, NP_006086.1:p.Val361Ile, NP_001386953.1:p.Val361Ile, XP_047305464.1:p.Val361Ile, NP_001386954.1:p.Val361Ile, NP_001386955.1:p.Val361Ile, NP_001098999.1:p.Val361Ile, NP_001386956.1:p.Val197Ile, XP_047305465.1:p.Val197Ile, XP_047305466.1:p.Val361Ile, XP_047305467.1:p.Val361Ile

Select item 14897600384.

rs1489760038 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:42410972 (GRCh38)
4:42412990 (GRCh37)
Canonical SPDI:: NC_000004.12:42410972:A:AA
Gene:: ATP8A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.42410973dup, NC_000004.11:g.42412990dup, XM_011513616.3:c.*1943dup, XM_011513616.2:c.*1943dup, XM_011513616.1:c.*1943dup, XM_011513615.2:c.*1943dup, XM_011513615.1:c.*1943dup, NM_006095.2:c.*1943dup, NM_001400024.1:c.*1943dup, XM_047449508.1:c.*1943dup, NM_001400025.1:c.*1943dup, NM_001400026.1:c.*1943dup, NM_001105529.1:c.*1943dup, NM_001400027.1:c.*1943dup, XM_047449509.1:c.*1943dup

Select item 14896960545.

rs1489696054 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:42524846 (GRCh38)
4:42526863 (GRCh37)
Canonical SPDI:: NC_000004.12:42524845:T:A
Gene:: ATP8A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.42524846T>A, NC_000004.11:g.42526863T>A, XM_011513616.3:c.1724A>T, XM_011513616.2:c.1724A>T, XM_011513616.1:c.1724A>T, XM_011513615.2:c.1724A>T, XM_011513615.1:c.1724A>T, NM_006095.2:c.1724A>T, NM_001400024.1:c.1724A>T, XM_047449508.1:c.1679A>T, NM_001400025.1:c.1679A>T, NM_001400026.1:c.1679A>T, NM_001105529.1:c.1679A>T, NM_001400027.1:c.1187A>T, XM_047449509.1:c.1232A>T, XM_047449510.1:c.1724A>T, XM_047449511.1:c.1724A>T, XP_011511918.1:p.Asp575Val, XP_011511917.1:p.Asp575Val, NP_006086.1:p.Asp575Val, NP_001386953.1:p.Asp575Val, XP_047305464.1:p.Asp560Val, NP_001386954.1:p.Asp560Val, NP_001386955.1:p.Asp560Val, NP_001098999.1:p.Asp560Val, NP_001386956.1:p.Asp396Val, XP_047305465.1:p.Asp411Val, XP_047305466.1:p.Asp575Val, XP_047305467.1:p.Asp575Val

Select item 14896564096.

rs1489656409 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:42555990 (GRCh38)
4:42558007 (GRCh37)
Canonical SPDI:: NC_000004.12:42555989:A:G
Gene:: ATP8A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000004.12:g.42555990A>G, NC_000004.11:g.42558007A>G, XM_011513616.3:c.1391T>C, XM_011513616.2:c.1391T>C, XM_011513616.1:c.1391T>C, XM_011513615.2:c.1391T>C, XM_011513615.1:c.1391T>C, NM_006095.2:c.1391T>C, NM_001400024.1:c.1391T>C, XM_047449508.1:c.1346T>C, NM_001400025.1:c.1346T>C, NM_001400026.1:c.1346T>C, NM_001105529.1:c.1346T>C, NM_001400027.1:c.854T>C, XM_047449509.1:c.899T>C, XM_047449510.1:c.1391T>C, XM_047449511.1:c.1391T>C, XP_011511918.1:p.Leu464Pro, XP_011511917.1:p.Leu464Pro, NP_006086.1:p.Leu464Pro, NP_001386953.1:p.Leu464Pro, XP_047305464.1:p.Leu449Pro, NP_001386954.1:p.Leu449Pro, NP_001386955.1:p.Leu449Pro, NP_001098999.1:p.Leu449Pro, NP_001386956.1:p.Leu285Pro, XP_047305465.1:p.Leu300Pro, XP_047305466.1:p.Leu464Pro, XP_047305467.1:p.Leu464Pro

Select item 14896451887.

rs1489645188 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:42485628 (GRCh38)
4:42487645 (GRCh37)
Canonical SPDI:: NC_000004.12:42485627:C:T
Gene:: ATP8A1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.42485628C>T, NC_000004.11:g.42487645C>T, XM_011513616.3:c.2213G>A, XM_011513616.2:c.2213G>A, XM_011513616.1:c.2213G>A, XM_011513615.2:c.2213G>A, XM_011513615.1:c.2213G>A, NM_006095.2:c.2192G>A, NM_001400024.1:c.2192G>A, XM_047449508.1:c.2168G>A, NM_001400025.1:c.2168G>A, NM_001400026.1:c.2147G>A, NM_001105529.1:c.2147G>A, NM_001400027.1:c.1655G>A, XM_047449509.1:c.1721G>A, XM_047449510.1:c.2213G>A, XP_011511918.1:p.Gly738Asp, XP_011511917.1:p.Gly738Asp, NP_006086.1:p.Gly731Asp, NP_001386953.1:p.Gly731Asp, XP_047305464.1:p.Gly723Asp, NP_001386954.1:p.Gly723Asp, NP_001386955.1:p.Gly716Asp, NP_001098999.1:p.Gly716Asp, NP_001386956.1:p.Gly552Asp, XP_047305465.1:p.Gly574Asp, XP_047305466.1:p.Gly738Asp

Select item 14893895818.

rs1489389581 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:42522184 (GRCh38)
4:42524201 (GRCh37)
Canonical SPDI:: NC_000004.12:42522183:T:C
Gene:: ATP8A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.42522184T>C, NC_000004.11:g.42524201T>C, XM_011513616.3:c.1923A>G, XM_011513616.2:c.1923A>G, XM_011513616.1:c.1923A>G, XM_011513615.2:c.1923A>G, XM_011513615.1:c.1923A>G, NM_006095.2:c.1923A>G, NM_001400024.1:c.1923A>G, XM_047449508.1:c.1878A>G, NM_001400025.1:c.1878A>G, NM_001400026.1:c.1878A>G, NM_001105529.1:c.1878A>G, NM_001400027.1:c.1386A>G, XM_047449509.1:c.1431A>G, XM_047449510.1:c.1923A>G, XM_047449511.1:c.1923A>G

Select item 14886393989.

rs1488639398 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 4:42409395 (GRCh38)
4:42411412 (GRCh37)
Canonical SPDI:: NC_000004.12:42409394:T:
Gene:: ATP8A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000026/7 (TOPMED)
HGVS:: NC_000004.12:g.42409395del, NC_000004.11:g.42411412del, XM_011513616.3:c.*3521del, XM_011513616.2:c.*3521del, XM_011513616.1:c.*3521del, XM_011513615.2:c.*3521del, XM_011513615.1:c.*3521del, NM_006095.2:c.*3521del, NM_001400024.1:c.*3521del, XM_047449508.1:c.*3521del, NM_001400025.1:c.*3521del, NM_001400026.1:c.*3521del, NM_001105529.1:c.*3521del, NM_001400027.1:c.*3521del, XM_047449509.1:c.*3521del

Select item 148843411310.

rs1488434113 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:42524806 (GRCh38)
4:42526823 (GRCh37)
Canonical SPDI:: NC_000004.12:42524805:G:A
Gene:: ATP8A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.42524806G>A, NC_000004.11:g.42526823G>A, XM_011513616.3:c.1764C>T, XM_011513616.2:c.1764C>T, XM_011513616.1:c.1764C>T, XM_011513615.2:c.1764C>T, XM_011513615.1:c.1764C>T, NM_006095.2:c.1764C>T, NM_001400024.1:c.1764C>T, XM_047449508.1:c.1719C>T, NM_001400025.1:c.1719C>T, NM_001400026.1:c.1719C>T, NM_001105529.1:c.1719C>T, NM_001400027.1:c.1227C>T, XM_047449509.1:c.1272C>T, XM_047449510.1:c.1764C>T, XM_047449511.1:c.1764C>T

Select item 148840059811.

rs1488400598 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:42408818 (GRCh38)
4:42410835 (GRCh37)
Canonical SPDI:: NC_000004.12:42408817:A:G
Gene:: ATP8A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.42408818A>G, NC_000004.11:g.42410835A>G, XM_011513616.3:c.*4098T>C, XM_011513616.2:c.*4098T>C, XM_011513616.1:c.*4098T>C, XM_011513615.2:c.*4098T>C, XM_011513615.1:c.*4098T>C, NM_006095.2:c.*4098T>C, NM_001400024.1:c.*4098T>C, XM_047449508.1:c.*4098T>C, NM_001400025.1:c.*4098T>C, NM_001400026.1:c.*4098T>C, NM_001105529.1:c.*4098T>C, NM_001400027.1:c.*4098T>C, XM_047449509.1:c.*4098T>C

Select item 148810445812.

rs1488104458 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:42411020 (GRCh38)
4:42413037 (GRCh37)
Canonical SPDI:: NC_000004.12:42411019:T:G
Gene:: ATP8A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000043/6 (GnomAD)
HGVS:: NC_000004.12:g.42411020T>G, NC_000004.11:g.42413037T>G, XM_011513616.3:c.*1896A>C, XM_011513616.2:c.*1896A>C, XM_011513616.1:c.*1896A>C, XM_011513615.2:c.*1896A>C, XM_011513615.1:c.*1896A>C, NM_006095.2:c.*1896A>C, NM_001400024.1:c.*1896A>C, XM_047449508.1:c.*1896A>C, NM_001400025.1:c.*1896A>C, NM_001400026.1:c.*1896A>C, NM_001105529.1:c.*1896A>C, NM_001400027.1:c.*1896A>C, XM_047449509.1:c.*1896A>C

Select item 148802562713.

rs1488025627 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:42555968 (GRCh38)
4:42557985 (GRCh37)
Canonical SPDI:: NC_000004.12:42555967:A:C,NC_000004.12:42555967:A:G
Gene:: ATP8A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.42555968A>C, NC_000004.12:g.42555968A>G, NC_000004.11:g.42557985A>C, NC_000004.11:g.42557985A>G, XM_011513616.3:c.1413T>G, XM_011513616.3:c.1413T>C, XM_011513616.2:c.1413T>G, XM_011513616.2:c.1413T>C, XM_011513616.1:c.1413T>G, XM_011513616.1:c.1413T>C, XM_011513615.2:c.1413T>G, XM_011513615.2:c.1413T>C, XM_011513615.1:c.1413T>G, XM_011513615.1:c.1413T>C, NM_006095.2:c.1413T>G, NM_006095.2:c.1413T>C, NM_001400024.1:c.1413T>G, NM_001400024.1:c.1413T>C, XM_047449508.1:c.1368T>G, XM_047449508.1:c.1368T>C, NM_001400025.1:c.1368T>G, NM_001400025.1:c.1368T>C, NM_001400026.1:c.1368T>G, NM_001400026.1:c.1368T>C, NM_001105529.1:c.1368T>G, NM_001105529.1:c.1368T>C, NM_001400027.1:c.876T>G, NM_001400027.1:c.876T>C, XM_047449509.1:c.921T>G, XM_047449509.1:c.921T>C, XM_047449510.1:c.1413T>G, XM_047449510.1:c.1413T>C, XM_047449511.1:c.1413T>G, XM_047449511.1:c.1413T>C, XP_011511918.1:p.His471Gln, XP_011511917.1:p.His471Gln, NP_006086.1:p.His471Gln, NP_001386953.1:p.His471Gln, XP_047305464.1:p.His456Gln, NP_001386954.1:p.His456Gln, NP_001386955.1:p.His456Gln, NP_001098999.1:p.His456Gln, NP_001386956.1:p.His292Gln, XP_047305465.1:p.His307Gln, XP_047305466.1:p.His471Gln, XP_047305467.1:p.His471Gln

Select item 148752947914.

rs1487529479 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:42446596 (GRCh38)
4:42448613 (GRCh37)
Canonical SPDI:: NC_000004.12:42446595:T:C
Gene:: ATP8A1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.0005/1 (Korea1K)
HGVS:: NC_000004.12:g.42446596T>C, NC_000004.11:g.42448613T>C, XM_011513616.3:c.2966A>G, XM_011513616.2:c.2966A>G, XM_011513616.1:c.2966A>G, XM_011513615.2:c.2966A>G, XM_011513615.1:c.2966A>G, NM_006095.2:c.2945A>G, NM_001400024.1:c.2945A>G, XM_047449508.1:c.2921A>G, NM_001400025.1:c.2921A>G, NM_001400026.1:c.2900A>G, NM_001105529.1:c.2900A>G, NM_001400027.1:c.2408A>G, XM_047449509.1:c.2474A>G, XP_011511918.1:p.Asn989Ser, XP_011511917.1:p.Asn989Ser, NP_006086.1:p.Asn982Ser, NP_001386953.1:p.Asn982Ser, XP_047305464.1:p.Asn974Ser, NP_001386954.1:p.Asn974Ser, NP_001386955.1:p.Asn967Ser, NP_001098999.1:p.Asn967Ser, NP_001386956.1:p.Asn803Ser, XP_047305465.1:p.Asn825Ser

Select item 148739140715.

rs1487391407 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:42411991 (GRCh38)
4:42414008 (GRCh37)
Canonical SPDI:: NC_000004.12:42411988:ATAT:AT
Gene:: ATP8A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.42411989AT[1], NC_000004.11:g.42414006AT[1], XM_011513616.3:c.*924AT[1], XM_011513616.2:c.*924AT[1], XM_011513616.1:c.*924AT[1], XM_011513615.2:c.*924AT[1], XM_011513615.1:c.*924AT[1], NM_006095.2:c.*924AT[1], NM_001400024.1:c.*924AT[1], XM_047449508.1:c.*924AT[1], NM_001400025.1:c.*924AT[1], NM_001400026.1:c.*924AT[1], NM_001105529.1:c.*924AT[1], NM_001400027.1:c.*924AT[1], XM_047449509.1:c.*924AT[1]

Select item 148724775916.

rs1487247759 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:42412960 (GRCh38)
4:42414977 (GRCh37)
Canonical SPDI:: NC_000004.12:42412959:T:C
Gene:: ATP8A1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.42412960T>C, NC_000004.11:g.42414977T>C, XM_011513616.3:c.3472A>G, XM_011513616.2:c.3472A>G, XM_011513616.1:c.3472A>G, XM_011513615.2:c.3472A>G, XM_011513615.1:c.3472A>G, NM_006095.2:c.3451A>G, NM_001400024.1:c.3451A>G, XM_047449508.1:c.3427A>G, NM_001400025.1:c.3427A>G, NM_001400026.1:c.3406A>G, NM_001105529.1:c.3406A>G, NM_001400027.1:c.2914A>G, XM_047449509.1:c.2980A>G, XP_011511918.1:p.Ile1158Val, XP_011511917.1:p.Ile1158Val, NP_006086.1:p.Ile1151Val, NP_001386953.1:p.Ile1151Val, XP_047305464.1:p.Ile1143Val, NP_001386954.1:p.Ile1143Val, NP_001386955.1:p.Ile1136Val, NP_001098999.1:p.Ile1136Val, NP_001386956.1:p.Ile972Val, XP_047305465.1:p.Ile994Val

Select item 148654642717.

rs1486546427 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:42412855 (GRCh38)
4:42414872 (GRCh37)
Canonical SPDI:: NC_000004.12:42412854:G:A
Gene:: ATP8A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.42412855G>A, NC_000004.11:g.42414872G>A, XM_011513616.3:c.*61C>T, XM_011513616.2:c.*61C>T, XM_011513616.1:c.*61C>T, XM_011513615.2:c.*61C>T, XM_011513615.1:c.*61C>T, NM_006095.2:c.*61C>T, NM_001400024.1:c.*61C>T, XM_047449508.1:c.*61C>T, NM_001400025.1:c.*61C>T, NM_001400026.1:c.*61C>T, NM_001105529.1:c.*61C>T, NM_001400027.1:c.*61C>T, XM_047449509.1:c.*61C>T

Select item 148644290618.

rs1486442906 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:42410703 (GRCh38)
4:42412720 (GRCh37)
Canonical SPDI:: NC_000004.12:42410702:A:G
Gene:: ATP8A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.42410703A>G, NC_000004.11:g.42412720A>G, XM_011513616.3:c.*2213T>C, XM_011513616.2:c.*2213T>C, XM_011513616.1:c.*2213T>C, XM_011513615.2:c.*2213T>C, XM_011513615.1:c.*2213T>C, NM_006095.2:c.*2213T>C, NM_001400024.1:c.*2213T>C, XM_047449508.1:c.*2213T>C, NM_001400025.1:c.*2213T>C, NM_001400026.1:c.*2213T>C, NM_001105529.1:c.*2213T>C, NM_001400027.1:c.*2213T>C, XM_047449509.1:c.*2213T>C

Select item 148592803619.

rs1485928036 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTT [Show Flanks]
Chromosome:: 4:42410449 (GRCh38)
4:42412467 (GRCh37)
Canonical SPDI:: NC_000004.12:42410449::TTT
Gene:: ATP8A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0.000071/1 (ALFA)
TTT=0.000007/1 (GnomAD)
TTT=0.000026/7 (TOPMED)
HGVS:: NC_000004.12:g.42410449_42410450insTTT, NC_000004.11:g.42412466_42412467insTTT, XM_011513616.3:c.*2466_*2467insAAA, XM_011513616.2:c.*2466_*2467insAAA, XM_011513616.1:c.*2466_*2467insAAA, XM_011513615.2:c.*2466_*2467insAAA, XM_011513615.1:c.*2466_*2467insAAA, NM_006095.2:c.*2466_*2467insAAA, NM_001400024.1:c.*2466_*2467insAAA, XM_047449508.1:c.*2466_*2467insAAA, NM_001400025.1:c.*2466_*2467insAAA, NM_001400026.1:c.*2466_*2467insAAA, NM_001105529.1:c.*2466_*2467insAAA, NM_001400027.1:c.*2466_*2467insAAA, XM_047449509.1:c.*2466_*2467insAAA

Select item 148527803220.

rs1485278032 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:42412566 (GRCh38)
4:42414583 (GRCh37)
Canonical SPDI:: NC_000004.12:42412565:T:C
Gene:: ATP8A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00005/7 (GnomAD)
HGVS:: NC_000004.12:g.42412566T>C, NC_000004.11:g.42414583T>C, XM_011513616.3:c.*350A>G, XM_011513616.2:c.*350A>G, XM_011513616.1:c.*350A>G, XM_011513615.2:c.*350A>G, XM_011513615.1:c.*350A>G, NM_006095.2:c.*350A>G, NM_001400024.1:c.*350A>G, XM_047449508.1:c.*350A>G, NM_001400025.1:c.*350A>G, NM_001400026.1:c.*350A>G, NM_001105529.1:c.*350A>G, NM_001400027.1:c.*350A>G, XM_047449509.1:c.*350A>G

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