SNP Links for Protein (Select 578811432) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 466

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Select item 14879871091.

rs1487987109 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 6:20109749 (GRCh38)
6:20109980 (GRCh37)
Canonical SPDI:: NC_000006.12:20109748:CC:C
Gene:: MBOAT1 (Varview)
Functional Consequence:: splice_acceptor_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.20109750del, NC_000006.11:g.20109981del

Select item 14847141382.

rs1484714138 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:20109740 (GRCh38)
6:20109971 (GRCh37)
Canonical SPDI:: NC_000006.12:20109739:T:C
Gene:: MBOAT1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.20109740T>C, NC_000006.11:g.20109971T>C, NM_001080480.3:c.1219A>G, NM_001080480.2:c.1219A>G, XM_006714999.3:c.1123A>G, XM_006714999.2:c.1123A>G, XM_006714999.1:c.1123A>G, NR_073465.2:n.1174A>G, NR_073465.1:n.1169A>G, NM_175879.2:c.*102A>G, NP_001073949.1:p.Asn407Asp, XP_006715062.1:p.Asn375Asp

Select item 14830781273.

rs1483078127 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:20126579 (GRCh38)
6:20126810 (GRCh37)
Canonical SPDI:: NC_000006.12:20126578:T:G
Gene:: MBOAT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000447/2 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000446/2 (Estonian)
HGVS:: NC_000006.12:g.20126579T>G, NC_000006.11:g.20126810T>G, XM_006715000.5:c.652A>C, XM_006715000.4:c.652A>C, XM_006715000.3:c.652A>C, XM_006715000.2:c.652A>C, XM_006715000.1:c.652A>C, XM_011514313.4:c.652A>C, XM_011514313.3:c.652A>C, XM_011514313.2:c.652A>C, XM_011514313.1:c.652A>C, NM_001080480.3:c.652A>C, NM_001080480.2:c.652A>C, XM_006714999.3:c.556A>C, XM_006714999.2:c.556A>C, XM_006714999.1:c.556A>C, NR_073465.2:n.607A>C, NR_073465.1:n.602A>C, NM_175879.2:c.652A>C, NM_175879.1:c.652A>C, XP_006715063.1:p.Lys218Gln, XP_011512615.1:p.Lys218Gln, NP_001073949.1:p.Lys218Gln, XP_006715062.1:p.Lys186Gln

Select item 14826972144.

rs1482697214 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:20151204 (GRCh38)
6:20151435 (GRCh37)
Canonical SPDI:: NC_000006.12:20151203:T:G
Gene:: MBOAT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.20151204T>G, NC_000006.11:g.20151435T>G, XM_006715000.5:c.304A>C, XM_006715000.4:c.304A>C, XM_006715000.3:c.304A>C, XM_006715000.2:c.304A>C, XM_006715000.1:c.304A>C, XM_011514313.4:c.304A>C, XM_011514313.3:c.304A>C, XM_011514313.2:c.304A>C, XM_011514313.1:c.304A>C, NM_001080480.3:c.304A>C, NM_001080480.2:c.304A>C, XM_006714999.3:c.208A>C, XM_006714999.2:c.208A>C, XM_006714999.1:c.208A>C, NM_175879.2:c.304A>C, NM_175879.1:c.304A>C, XP_006715063.1:p.Ser102Arg, XP_011512615.1:p.Ser102Arg, NP_001073949.1:p.Ser102Arg, XP_006715062.1:p.Ser70Arg

Select item 14809675995.

rs1480967599 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:20152716 (GRCh38)
6:20152947 (GRCh37)
Canonical SPDI:: NC_000006.12:20152715:G:A
Gene:: MBOAT1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00003/1 (ALFA)
HGVS:: NC_000006.12:g.20152716G>A, NC_000006.11:g.20152947G>A, XM_006715000.5:c.153C>T, XM_006715000.4:c.153C>T, XM_006715000.3:c.153C>T, XM_006715000.2:c.153C>T, XM_006715000.1:c.153C>T, XM_011514313.4:c.153C>T, XM_011514313.3:c.153C>T, XM_011514313.2:c.153C>T, XM_011514313.1:c.153C>T, NM_001080480.3:c.153C>T, NM_001080480.2:c.153C>T, XM_006714999.3:c.57C>T, XM_006714999.2:c.57C>T, XM_006714999.1:c.57C>T, NM_175879.2:c.153C>T, NM_175879.1:c.153C>T

Select item 14800541356.

rs1480054135 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:20151194 (GRCh38)
6:20151425 (GRCh37)
Canonical SPDI:: NC_000006.12:20151193:T:C
Gene:: MBOAT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.20151194T>C, NC_000006.11:g.20151425T>C, XM_006715000.5:c.314A>G, XM_006715000.4:c.314A>G, XM_006715000.3:c.314A>G, XM_006715000.2:c.314A>G, XM_006715000.1:c.314A>G, XM_011514313.4:c.314A>G, XM_011514313.3:c.314A>G, XM_011514313.2:c.314A>G, XM_011514313.1:c.314A>G, NM_001080480.3:c.314A>G, NM_001080480.2:c.314A>G, XM_006714999.3:c.218A>G, XM_006714999.2:c.218A>G, XM_006714999.1:c.218A>G, NM_175879.2:c.314A>G, NM_175879.1:c.314A>G, XP_006715063.1:p.Asn105Ser, XP_011512615.1:p.Asn105Ser, NP_001073949.1:p.Asn105Ser, XP_006715062.1:p.Asn73Ser

Select item 14761116157.

rs1476111615 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:20102357 (GRCh38)
6:20102588 (GRCh37)
Canonical SPDI:: NC_000006.12:20102356:T:C
Gene:: MBOAT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000054/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.20102357T>C, NC_000006.11:g.20102588T>C, NM_001080480.3:c.1417A>G, NM_001080480.2:c.1417A>G, XM_006714999.3:c.1321A>G, XM_006714999.2:c.1321A>G, XM_006714999.1:c.1321A>G, NR_073465.2:n.1372A>G, NR_073465.1:n.1367A>G, NM_175879.2:c.*300A>G, NP_001073949.1:p.Met473Val, XP_006715062.1:p.Met441Val

Select item 14758243318.

rs1475824331 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:20112898 (GRCh38)
6:20113129 (GRCh37)
Canonical SPDI:: NC_000006.12:20112897:A:G
Gene:: MBOAT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.20112898A>G, NC_000006.11:g.20113129A>G, NM_001080480.3:c.1187T>C, NM_001080480.2:c.1187T>C, XM_006714999.3:c.1091T>C, XM_006714999.2:c.1091T>C, XM_006714999.1:c.1091T>C, NR_073465.2:n.1142T>C, NR_073465.1:n.1137T>C, NM_175879.2:c.*70T>C, NP_001073949.1:p.Leu396Pro, XP_006715062.1:p.Leu364Pro

Select item 14751867479.

rs1475186747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:20124517 (GRCh38)
6:20124748 (GRCh37)
Canonical SPDI:: NC_000006.12:20124516:G:T
Gene:: MBOAT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.20124517G>T, NC_000006.11:g.20124748G>T, NM_001080480.3:c.798C>A, NM_001080480.2:c.798C>A, XM_006714999.3:c.702C>A, XM_006714999.2:c.702C>A, XM_006714999.1:c.702C>A, NR_073465.2:n.753C>A, NR_073465.1:n.748C>A, NM_175879.2:c.798C>A, NM_175879.1:c.798C>A, NP_001073949.1:p.Cys266Ter, XP_006715062.1:p.Cys234Ter

Select item 147277611510.

rs1472776115 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 6:20126517 (GRCh38)
6:20126748 (GRCh37)
Canonical SPDI:: NC_000006.12:20126516:T:
Gene:: MBOAT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.20126517del, NC_000006.11:g.20126748del, XM_006715000.5:c.714del, XM_006715000.4:c.714del, XM_006715000.3:c.714del, XM_006715000.2:c.714del, XM_006715000.1:c.714del, XM_011514313.4:c.714del, XM_011514313.3:c.714del, XM_011514313.2:c.714del, XM_011514313.1:c.714del, NM_001080480.3:c.714del, NM_001080480.2:c.714del, XM_006714999.3:c.618del, XM_006714999.2:c.618del, XM_006714999.1:c.618del, NR_073465.2:n.669del, NR_073465.1:n.664del, NM_175879.2:c.714del, NM_175879.1:c.714del, XP_006715063.1:p.Val239fs, XP_011512615.1:p.Gly239fs, NP_001073949.1:p.Gly239fs, XP_006715062.1:p.Gly207fs

Select item 147190600911.

rs1471906009 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:20131149 (GRCh38)
6:20131380 (GRCh37)
Canonical SPDI:: NC_000006.12:20131148:T:A
Gene:: MBOAT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000071/1 (TOMMO)
HGVS:: NC_000006.12:g.20131149T>A, NC_000006.11:g.20131380T>A, XM_006715000.5:c.470A>T, XM_006715000.4:c.470A>T, XM_006715000.3:c.470A>T, XM_006715000.2:c.470A>T, XM_006715000.1:c.470A>T, XM_011514313.4:c.470A>T, XM_011514313.3:c.470A>T, XM_011514313.2:c.470A>T, XM_011514313.1:c.470A>T, NM_001080480.3:c.470A>T, NM_001080480.2:c.470A>T, XM_006714999.3:c.374A>T, XM_006714999.2:c.374A>T, XM_006714999.1:c.374A>T, NM_175879.2:c.470A>T, NM_175879.1:c.470A>T, XP_006715063.1:p.His157Leu, XP_011512615.1:p.His157Leu, NP_001073949.1:p.His157Leu, XP_006715062.1:p.His125Leu

Select item 146514048512.

rs1465140485 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:20124521 (GRCh38)
6:20124752 (GRCh37)
Canonical SPDI:: NC_000006.12:20124520:G:A
Gene:: MBOAT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.20124521G>A, NC_000006.11:g.20124752G>A, NM_001080480.3:c.794C>T, NM_001080480.2:c.794C>T, XM_006714999.3:c.698C>T, XM_006714999.2:c.698C>T, XM_006714999.1:c.698C>T, NR_073465.2:n.749C>T, NR_073465.1:n.744C>T, NM_175879.2:c.794C>T, NM_175879.1:c.794C>T, NP_001073949.1:p.Thr265Ile, XP_006715062.1:p.Thr233Ile

Select item 146328133413.

rs1463281334 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:20152699 (GRCh38)
6:20152930 (GRCh37)
Canonical SPDI:: NC_000006.12:20152698:C:G
Gene:: MBOAT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000032/8 (GnomAD_exomes)
G=0.000057/15 (TOPMED)
G=0.000057/8 (GnomAD)
HGVS:: NC_000006.12:g.20152699C>G, NC_000006.11:g.20152930C>G, XM_006715000.5:c.170G>C, XM_006715000.4:c.170G>C, XM_006715000.3:c.170G>C, XM_006715000.2:c.170G>C, XM_006715000.1:c.170G>C, XM_011514313.4:c.170G>C, XM_011514313.3:c.170G>C, XM_011514313.2:c.170G>C, XM_011514313.1:c.170G>C, NM_001080480.3:c.170G>C, NM_001080480.2:c.170G>C, XM_006714999.3:c.74G>C, XM_006714999.2:c.74G>C, XM_006714999.1:c.74G>C, NM_175879.2:c.170G>C, NM_175879.1:c.170G>C, XP_006715063.1:p.Gly57Ala, XP_011512615.1:p.Gly57Ala, NP_001073949.1:p.Gly57Ala, XP_006715062.1:p.Gly25Ala

Select item 146016601214.

rs1460166012 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:20115318 (GRCh38)
6:20115549 (GRCh37)
Canonical SPDI:: NC_000006.12:20115317:C:T
Gene:: MBOAT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000098/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.20115318C>T, NC_000006.11:g.20115549C>T, NM_001080480.3:c.1046G>A, NM_001080480.2:c.1046G>A, XM_006714999.3:c.950G>A, XM_006714999.2:c.950G>A, XM_006714999.1:c.950G>A, NR_073465.2:n.1001G>A, NR_073465.1:n.996G>A, NM_175879.2:c.1046G>A, NM_175879.1:c.1046G>A, NP_001073949.1:p.Trp349Ter, XP_006715062.1:p.Trp317Ter

Select item 145730912515.

rs1457309125 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:20102287 (GRCh38)
6:20102518 (GRCh37)
Canonical SPDI:: NC_000006.12:20102286:C:G
Gene:: MBOAT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,terminator_codon_variant,stop_lost
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.20102287C>G, NC_000006.11:g.20102518C>G, NM_001080480.3:c.1487G>C, NM_001080480.2:c.1487G>C, XM_006714999.3:c.1391G>C, XM_006714999.2:c.1391G>C, XM_006714999.1:c.1391G>C, NR_073465.2:n.1442G>C, NR_073465.1:n.1437G>C, NM_175879.2:c.*370G>C, NP_001073949.1:p.Ter496Ser, XP_006715062.1:p.Ter464Ser

Select item 145655511916.

rs1456555119 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:20144293 (GRCh38)
6:20144524 (GRCh37)
Canonical SPDI:: NC_000006.12:20144292:C:G
Gene:: MBOAT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.20144293C>G, NC_000006.11:g.20144524C>G, XM_006715000.5:c.346G>C, XM_006715000.4:c.346G>C, XM_006715000.3:c.346G>C, XM_006715000.2:c.346G>C, XM_006715000.1:c.346G>C, XM_011514313.4:c.346G>C, XM_011514313.3:c.346G>C, XM_011514313.2:c.346G>C, XM_011514313.1:c.346G>C, NM_001080480.3:c.346G>C, NM_001080480.2:c.346G>C, XM_006714999.3:c.250G>C, XM_006714999.2:c.250G>C, XM_006714999.1:c.250G>C, NR_073465.2:n.357G>C, NR_073465.1:n.352G>C, NM_175879.2:c.346G>C, NM_175879.1:c.346G>C, XP_006715063.1:p.Gly116Arg, XP_011512615.1:p.Gly116Arg, NP_001073949.1:p.Gly116Arg, XP_006715062.1:p.Gly84Arg

Select item 145477200817.

rs1454772008 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:20144263 (GRCh38)
6:20144494 (GRCh37)
Canonical SPDI:: NC_000006.12:20144262:T:C
Gene:: MBOAT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.20144263T>C, NC_000006.11:g.20144494T>C, XM_006715000.5:c.376A>G, XM_006715000.4:c.376A>G, XM_006715000.3:c.376A>G, XM_006715000.2:c.376A>G, XM_006715000.1:c.376A>G, XM_011514313.4:c.376A>G, XM_011514313.3:c.376A>G, XM_011514313.2:c.376A>G, XM_011514313.1:c.376A>G, NM_001080480.3:c.376A>G, NM_001080480.2:c.376A>G, XM_006714999.3:c.280A>G, XM_006714999.2:c.280A>G, XM_006714999.1:c.280A>G, NR_073465.2:n.387A>G, NR_073465.1:n.382A>G, NM_175879.2:c.376A>G, NM_175879.1:c.376A>G, XP_006715063.1:p.Ile126Val, XP_011512615.1:p.Ile126Val, NP_001073949.1:p.Ile126Val, XP_006715062.1:p.Ile94Val

Select item 145038721818.

rs1450387218 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:20124597 (GRCh38)
6:20124828 (GRCh37)
Canonical SPDI:: NC_000006.12:20124596:C:T
Gene:: MBOAT1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.20124597C>T, NC_000006.11:g.20124828C>T, NM_001080480.3:c.718G>A, NM_001080480.2:c.718G>A, XM_006714999.3:c.622G>A, XM_006714999.2:c.622G>A, XM_006714999.1:c.622G>A, NR_073465.2:n.673G>A, NR_073465.1:n.668G>A, NM_175879.2:c.718G>A, NM_175879.1:c.718G>A, NP_001073949.1:p.Ala240Thr, XP_006715062.1:p.Ala208Thr

Select item 144372041219.

rs1443720412 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:20102347 (GRCh38)
6:20102578 (GRCh37)
Canonical SPDI:: NC_000006.12:20102346:T:C
Gene:: MBOAT1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000026/7 (TOPMED)
C=0.00005/7 (GnomAD)
HGVS:: NC_000006.12:g.20102347T>C, NC_000006.11:g.20102578T>C, NM_001080480.3:c.1427A>G, NM_001080480.2:c.1427A>G, XM_006714999.3:c.1331A>G, XM_006714999.2:c.1331A>G, XM_006714999.1:c.1331A>G, NR_073465.2:n.1382A>G, NR_073465.1:n.1377A>G, NM_175879.2:c.*310A>G, NP_001073949.1:p.Gln476Arg, XP_006715062.1:p.Gln444Arg

Select item 144140669220.

rs1441406692 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:20102315 (GRCh38)
6:20102546 (GRCh37)
Canonical SPDI:: NC_000006.12:20102314:T:C
Gene:: MBOAT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.20102315T>C, NC_000006.11:g.20102546T>C, NM_001080480.3:c.1459A>G, NM_001080480.2:c.1459A>G, XM_006714999.3:c.1363A>G, XM_006714999.2:c.1363A>G, XM_006714999.1:c.1363A>G, NR_073465.2:n.1414A>G, NR_073465.1:n.1409A>G, NM_175879.2:c.*342A>G, NP_001073949.1:p.Asn487Asp, XP_006715062.1:p.Asn455Asp

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