SNP Links for Nucleotide (Select 1034674339) - SNP

Select item 14904391541.

rs1490439154 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:3084632 (GRCh38)
X:3002673 (GRCh37)
Canonical SPDI:: NC_000023.11:3084631:A:T
Gene:: ARSF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000087/2 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.3084632A>T, NC_000023.10:g.3002673A>T, NG_012822.2:g.49399A>T, NM_004042.5:c.796A>T, NM_004042.4:c.796A>T, NM_001201539.2:c.796A>T, NM_001201539.1:c.796A>T, NM_001201538.2:c.796A>T, NM_001201538.1:c.796A>T, XM_011545522.2:c.847A>T, XM_011545522.1:c.847A>T, XM_011545523.2:c.847A>T, XM_011545523.1:c.847A>T, XM_011545524.2:c.847A>T, XM_011545524.1:c.847A>T, XM_017029528.1:c.847A>T, NP_004033.2:p.Ile266Phe, NP_001188468.1:p.Ile266Phe, NP_001188467.1:p.Ile266Phe, XP_011543824.1:p.Ile283Phe, XP_011543825.1:p.Ile283Phe, XP_011543826.1:p.Ile283Phe, XP_016885017.1:p.Ile283Phe

Select item 14882590842.

rs1488259084 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:3084531 (GRCh38)
X:3002572 (GRCh37)
Canonical SPDI:: NC_000023.11:3084530:C:A
Gene:: ARSF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.3084531C>A, NC_000023.10:g.3002572C>A, NG_012822.2:g.49298C>A, NM_004042.5:c.695C>A, NM_004042.4:c.695C>A, NM_001201539.2:c.695C>A, NM_001201539.1:c.695C>A, NM_001201538.2:c.695C>A, NM_001201538.1:c.695C>A, XM_011545522.2:c.746C>A, XM_011545522.1:c.746C>A, XM_011545523.2:c.746C>A, XM_011545523.1:c.746C>A, XM_011545524.2:c.746C>A, XM_011545524.1:c.746C>A, XM_017029528.1:c.746C>A, NP_004033.2:p.Ala232Asp, NP_001188468.1:p.Ala232Asp, NP_001188467.1:p.Ala232Asp, XP_011543824.1:p.Ala249Asp, XP_011543825.1:p.Ala249Asp, XP_011543826.1:p.Ala249Asp, XP_016885017.1:p.Ala249Asp

Select item 14856298403.

rs1485629840 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:3084327 (GRCh38)
X:3002368 (GRCh37)
Canonical SPDI:: NC_000023.11:3084326:G:A
Gene:: ARSF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.3084327G>A, NC_000023.10:g.3002368G>A, NG_012822.2:g.49094G>A, NM_004042.5:c.491G>A, NM_004042.4:c.491G>A, NM_001201539.2:c.491G>A, NM_001201539.1:c.491G>A, NM_001201538.2:c.491G>A, NM_001201538.1:c.491G>A, XM_011545522.2:c.542G>A, XM_011545522.1:c.542G>A, XM_011545523.2:c.542G>A, XM_011545523.1:c.542G>A, XM_011545524.2:c.542G>A, XM_011545524.1:c.542G>A, XM_017029528.1:c.542G>A, NP_004033.2:p.Gly164Asp, NP_001188468.1:p.Gly164Asp, NP_001188467.1:p.Gly164Asp, XP_011543824.1:p.Gly181Asp, XP_011543825.1:p.Gly181Asp, XP_011543826.1:p.Gly181Asp, XP_016885017.1:p.Gly181Asp

Select item 14798026194.

rs1479802619 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:3101180 (GRCh38)
X:3019221 (GRCh37)
Canonical SPDI:: NC_000023.11:3101179:G:A
Gene:: ARSF (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.3101180G>A, NC_000023.10:g.3019221G>A, NG_012822.2:g.65947G>A, NM_004042.5:c.1061G>A, NM_004042.4:c.1061G>A, NM_001201539.2:c.1061G>A, NM_001201539.1:c.1061G>A, NM_001201538.2:c.1061G>A, NM_001201538.1:c.1061G>A, XM_011545522.2:c.1112G>A, XM_011545522.1:c.1112G>A, XM_011545523.2:c.1025G>A, XM_011545523.1:c.1025G>A, XM_017029528.1:c.*81G>A, NP_004033.2:p.Arg354Gln, NP_001188468.1:p.Arg354Gln, NP_001188467.1:p.Arg354Gln, XP_011543824.1:p.Arg371Gln, XP_011543825.1:p.Arg342Gln

Select item 14748886615.

rs1474888661 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:3084261 (GRCh38)
X:3002302 (GRCh37)
Canonical SPDI:: NC_000023.11:3084260:T:C
Gene:: ARSF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.3084261T>C, NC_000023.10:g.3002302T>C, NG_012822.2:g.49028T>C, NM_004042.5:c.425T>C, NM_004042.4:c.425T>C, NM_001201539.2:c.425T>C, NM_001201539.1:c.425T>C, NM_001201538.2:c.425T>C, NM_001201538.1:c.425T>C, XM_011545522.2:c.476T>C, XM_011545522.1:c.476T>C, XM_011545523.2:c.476T>C, XM_011545523.1:c.476T>C, XM_011545524.2:c.476T>C, XM_011545524.1:c.476T>C, XM_017029528.1:c.476T>C, NP_004033.2:p.Leu142Ser, NP_001188468.1:p.Leu142Ser, NP_001188467.1:p.Leu142Ser, XP_011543824.1:p.Leu159Ser, XP_011543825.1:p.Leu159Ser, XP_011543826.1:p.Leu159Ser, XP_016885017.1:p.Leu159Ser

Select item 14704986376.

rs1470498637 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATCATCAG>- [Show Flanks]
Chromosome:: X:3066994 (GRCh38)
X:2985035 (GRCh37)
Canonical SPDI:: NC_000023.11:3066992:GATCATCAG:G
Gene:: ARSF (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.3066994_3067001del, NC_000023.10:g.2985035_2985042del, NG_012822.2:g.31761_31768del, XM_011545522.2:c.-23_-16del, XM_011545522.1:c.-23_-16del, XM_011545523.2:c.-23_-16del, XM_011545523.1:c.-23_-16del, XM_011545524.2:c.-23_-16del, XM_011545524.1:c.-23_-16del, XM_017029528.1:c.-23_-16del

Select item 14671184127.

rs1467118412 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:3076578 (GRCh38)
X:2994619 (GRCh37)
Canonical SPDI:: NC_000023.11:3076577:A:T
Gene:: ARSF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000006/1 (GnomAD_exomes)
T=0.00009/1 (TOMMO)
HGVS:: NC_000023.11:g.3076578A>T, NC_000023.10:g.2994619A>T, NG_012822.2:g.41345A>T, NM_004042.5:c.192A>T, NM_004042.4:c.192A>T, NM_001201539.2:c.192A>T, NM_001201539.1:c.192A>T, NM_001201538.2:c.192A>T, NM_001201538.1:c.192A>T, XM_011545522.2:c.243A>T, XM_011545522.1:c.243A>T, XM_011545523.2:c.243A>T, XM_011545523.1:c.243A>T, XM_011545524.2:c.243A>T, XM_011545524.1:c.243A>T, XM_017029528.1:c.243A>T, NP_004033.2:p.Glu64Asp, NP_001188468.1:p.Glu64Asp, NP_001188467.1:p.Glu64Asp, XP_011543824.1:p.Glu81Asp, XP_011543825.1:p.Glu81Asp, XP_011543826.1:p.Glu81Asp, XP_016885017.1:p.Glu81Asp

Select item 14585937748.

rs1458593774 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:3084271 (GRCh38)
X:3002312 (GRCh37)
Canonical SPDI:: NC_000023.11:3084270:C:T
Gene:: ARSF (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.3084271C>T, NC_000023.10:g.3002312C>T, NG_012822.2:g.49038C>T, NM_004042.5:c.435C>T, NM_004042.4:c.435C>T, NM_001201539.2:c.435C>T, NM_001201539.1:c.435C>T, NM_001201538.2:c.435C>T, NM_001201538.1:c.435C>T, XM_011545522.2:c.486C>T, XM_011545522.1:c.486C>T, XM_011545523.2:c.486C>T, XM_011545523.1:c.486C>T, XM_011545524.2:c.486C>T, XM_011545524.1:c.486C>T, XM_017029528.1:c.486C>T

Select item 14485577799.

rs1448557779 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:3101128 (GRCh38)
X:3019169 (GRCh37)
Canonical SPDI:: NC_000023.11:3101127:A:G
Gene:: ARSF (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.3101128A>G, NC_000023.10:g.3019169A>G, NG_012822.2:g.65895A>G, NM_004042.5:c.1009A>G, NM_004042.4:c.1009A>G, NM_001201539.2:c.1009A>G, NM_001201539.1:c.1009A>G, NM_001201538.2:c.1009A>G, NM_001201538.1:c.1009A>G, XM_011545522.2:c.1060A>G, XM_011545522.1:c.1060A>G, XM_011545523.2:c.973A>G, XM_011545523.1:c.973A>G, XM_017029528.1:c.*29A>G, NP_004033.2:p.Asn337Asp, NP_001188468.1:p.Asn337Asp, NP_001188467.1:p.Asn337Asp, XP_011543824.1:p.Asn354Asp, XP_011543825.1:p.Asn325Asp

Select item 144804974910.

rs1448049749 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:3084431 (GRCh38)
X:3002472 (GRCh37)
Canonical SPDI:: NC_000023.11:3084430:G:T
Gene:: ARSF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.3084431G>T, NC_000023.10:g.3002472G>T, NG_012822.2:g.49198G>T, NM_004042.5:c.595G>T, NM_004042.4:c.595G>T, NM_001201539.2:c.595G>T, NM_001201539.1:c.595G>T, NM_001201538.2:c.595G>T, NM_001201538.1:c.595G>T, XM_011545522.2:c.646G>T, XM_011545522.1:c.646G>T, XM_011545523.2:c.646G>T, XM_011545523.1:c.646G>T, XM_011545524.2:c.646G>T, XM_011545524.1:c.646G>T, XM_017029528.1:c.646G>T, NP_004033.2:p.Ala199Ser, NP_001188468.1:p.Ala199Ser, NP_001188467.1:p.Ala199Ser, XP_011543824.1:p.Ala216Ser, XP_011543825.1:p.Ala216Ser, XP_011543826.1:p.Ala216Ser, XP_016885017.1:p.Ala216Ser

Select item 144718033711.

rs1447180337 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:3084352 (GRCh38)
X:3002393 (GRCh37)
Canonical SPDI:: NC_000023.11:3084351:C:G,NC_000023.11:3084351:C:T
Gene:: ARSF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.3084352C>G, NC_000023.11:g.3084352C>T, NC_000023.10:g.3002393C>G, NC_000023.10:g.3002393C>T, NG_012822.2:g.49119C>G, NG_012822.2:g.49119C>T, NM_004042.5:c.516C>G, NM_004042.5:c.516C>T, NM_004042.4:c.516C>G, NM_004042.4:c.516C>T, NM_001201539.2:c.516C>G, NM_001201539.2:c.516C>T, NM_001201539.1:c.516C>G, NM_001201539.1:c.516C>T, NM_001201538.2:c.516C>G, NM_001201538.2:c.516C>T, NM_001201538.1:c.516C>G, NM_001201538.1:c.516C>T, XM_011545522.2:c.567C>G, XM_011545522.2:c.567C>T, XM_011545522.1:c.567C>G, XM_011545522.1:c.567C>T, XM_011545523.2:c.567C>G, XM_011545523.2:c.567C>T, XM_011545523.1:c.567C>G, XM_011545523.1:c.567C>T, XM_011545524.2:c.567C>G, XM_011545524.2:c.567C>T, XM_011545524.1:c.567C>G, XM_011545524.1:c.567C>T, XM_017029528.1:c.567C>G, XM_017029528.1:c.567C>T, NP_004033.2:p.Ser172Arg, NP_001188468.1:p.Ser172Arg, NP_001188467.1:p.Ser172Arg, XP_011543824.1:p.Ser189Arg, XP_011543825.1:p.Ser189Arg, XP_011543826.1:p.Ser189Arg, XP_016885017.1:p.Ser189Arg

Select item 144176876412.

rs1441768764 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:3084398 (GRCh38)
X:3002439 (GRCh37)
Canonical SPDI:: NC_000023.11:3084397:C:G
Gene:: ARSF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.3084398C>G, NC_000023.10:g.3002439C>G, NG_012822.2:g.49165C>G, NM_004042.5:c.562C>G, NM_004042.4:c.562C>G, NM_001201539.2:c.562C>G, NM_001201539.1:c.562C>G, NM_001201538.2:c.562C>G, NM_001201538.1:c.562C>G, XM_011545522.2:c.613C>G, XM_011545522.1:c.613C>G, XM_011545523.2:c.613C>G, XM_011545523.1:c.613C>G, XM_011545524.2:c.613C>G, XM_011545524.1:c.613C>G, XM_017029528.1:c.613C>G, NP_004033.2:p.Gln188Glu, NP_001188468.1:p.Gln188Glu, NP_001188467.1:p.Gln188Glu, XP_011543824.1:p.Gln205Glu, XP_011543825.1:p.Gln205Glu, XP_011543826.1:p.Gln205Glu, XP_016885017.1:p.Gln205Glu

Select item 143991991213.

rs1439919912 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:3080918 (GRCh38)
X:2998959 (GRCh37)
Canonical SPDI:: NC_000023.11:3080917:T:C
Gene:: ARSF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.3080918T>C, NC_000023.10:g.2998959T>C, NG_012822.2:g.45685T>C, NM_004042.5:c.311T>C, NM_004042.4:c.311T>C, NM_001201539.2:c.311T>C, NM_001201539.1:c.311T>C, NM_001201538.2:c.311T>C, NM_001201538.1:c.311T>C, XM_011545522.2:c.362T>C, XM_011545522.1:c.362T>C, XM_011545523.2:c.362T>C, XM_011545523.1:c.362T>C, XM_011545524.2:c.362T>C, XM_011545524.1:c.362T>C, XM_017029528.1:c.362T>C, NP_004033.2:p.Val104Ala, NP_001188468.1:p.Val104Ala, NP_001188467.1:p.Val104Ala, XP_011543824.1:p.Val121Ala, XP_011543825.1:p.Val121Ala, XP_011543826.1:p.Val121Ala, XP_016885017.1:p.Val121Ala

Select item 143883119814.

rs1438831198 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:3076661 (GRCh38)
X:2994702 (GRCh37)
Canonical SPDI:: NC_000023.11:3076660:T:C
Gene:: ARSF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.3076661T>C, NC_000023.10:g.2994702T>C, NG_012822.2:g.41428T>C, NM_004042.5:c.275T>C, NM_004042.4:c.275T>C, NM_001201539.2:c.275T>C, NM_001201539.1:c.275T>C, NM_001201538.2:c.275T>C, NM_001201538.1:c.275T>C, XM_011545522.2:c.326T>C, XM_011545522.1:c.326T>C, XM_011545523.2:c.326T>C, XM_011545523.1:c.326T>C, XM_011545524.2:c.326T>C, XM_011545524.1:c.326T>C, XM_017029528.1:c.326T>C, NP_004033.2:p.Ile92Thr, NP_001188468.1:p.Ile92Thr, NP_001188467.1:p.Ile92Thr, XP_011543824.1:p.Ile109Thr, XP_011543825.1:p.Ile109Thr, XP_011543826.1:p.Ile109Thr, XP_016885017.1:p.Ile109Thr

Select item 143468535415.

rs1434685354 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:3084536 (GRCh38)
X:3002577 (GRCh37)
Canonical SPDI:: NC_000023.11:3084535:T:A
Gene:: ARSF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.3084536T>A, NC_000023.10:g.3002577T>A, NG_012822.2:g.49303T>A, NM_004042.5:c.700T>A, NM_004042.4:c.700T>A, NM_001201539.2:c.700T>A, NM_001201539.1:c.700T>A, NM_001201538.2:c.700T>A, NM_001201538.1:c.700T>A, XM_011545522.2:c.751T>A, XM_011545522.1:c.751T>A, XM_011545523.2:c.751T>A, XM_011545523.1:c.751T>A, XM_011545524.2:c.751T>A, XM_011545524.1:c.751T>A, XM_017029528.1:c.751T>A, NP_004033.2:p.Phe234Ile, NP_001188468.1:p.Phe234Ile, NP_001188467.1:p.Phe234Ile, XP_011543824.1:p.Phe251Ile, XP_011543825.1:p.Phe251Ile, XP_011543826.1:p.Phe251Ile, XP_016885017.1:p.Phe251Ile

Select item 143069535016.

rs1430695350 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:3068076 (GRCh38)
X:2986117 (GRCh37)
Canonical SPDI:: NC_000023.11:3068075:A:G
Gene:: ARSF (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.3068076A>G, NC_000023.10:g.2986117A>G, NG_012822.2:g.32843A>G, NM_004042.5:c.-25A>G, NM_004042.4:c.-25A>G, NM_001201539.2:c.-25A>G, NM_001201539.1:c.-25A>G, NM_001201538.2:c.-25A>G, NM_001201538.1:c.-25A>G, XM_011545522.2:c.27A>G, XM_011545522.1:c.27A>G, XM_011545523.2:c.27A>G, XM_011545523.1:c.27A>G, XM_011545524.2:c.27A>G, XM_011545524.1:c.27A>G, XM_017029528.1:c.27A>G

Select item 142284087917.

rs1422840879 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:3072061 (GRCh38)
X:2990102 (GRCh37)
Canonical SPDI:: NC_000023.11:3072060:T:C
Gene:: ARSF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.3072061T>C, NC_000023.10:g.2990102T>C, NG_012822.2:g.36828T>C, NM_004042.5:c.47T>C, NM_004042.4:c.47T>C, NM_001201539.2:c.47T>C, NM_001201539.1:c.47T>C, NM_001201538.2:c.47T>C, NM_001201538.1:c.47T>C, XM_011545522.2:c.98T>C, XM_011545522.1:c.98T>C, XM_011545523.2:c.98T>C, XM_011545523.1:c.98T>C, XM_011545524.2:c.98T>C, XM_011545524.1:c.98T>C, XM_017029528.1:c.98T>C, NP_004033.2:p.Leu16Pro, NP_001188468.1:p.Leu16Pro, NP_001188467.1:p.Leu16Pro, XP_011543824.1:p.Leu33Pro, XP_011543825.1:p.Leu33Pro, XP_011543826.1:p.Leu33Pro, XP_016885017.1:p.Leu33Pro

Select item 142100687218.

rs1421006872 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:3072152 (GRCh38)
X:2990193 (GRCh37)
Canonical SPDI:: NC_000023.11:3072151:C:T
Gene:: ARSF (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.3072152C>T, NC_000023.10:g.2990193C>T, NG_012822.2:g.36919C>T, NM_004042.5:c.138C>T, NM_004042.4:c.138C>T, NM_001201539.2:c.138C>T, NM_001201539.1:c.138C>T, NM_001201538.2:c.138C>T, NM_001201538.1:c.138C>T, XM_011545522.2:c.189C>T, XM_011545522.1:c.189C>T, XM_011545523.2:c.189C>T, XM_011545523.1:c.189C>T, XM_011545524.2:c.189C>T, XM_011545524.1:c.189C>T, XM_017029528.1:c.189C>T

Select item 141941951219.

rs1419419512 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:3084651 (GRCh38)
X:3002692 (GRCh37)
Canonical SPDI:: NC_000023.11:3084650:T:A
Gene:: ARSF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000028/4 (GnomAD_exomes)
HGVS:: NC_000023.11:g.3084651T>A, NC_000023.10:g.3002692T>A, NG_012822.2:g.49418T>A, NM_004042.5:c.815T>A, NM_004042.4:c.815T>A, NM_001201539.2:c.815T>A, NM_001201539.1:c.815T>A, NM_001201538.2:c.815T>A, NM_001201538.1:c.815T>A, XM_011545522.2:c.866T>A, XM_011545522.1:c.866T>A, XM_011545523.2:c.866T>A, XM_011545523.1:c.866T>A, XM_011545524.2:c.866T>A, XM_011545524.1:c.866T>A, XM_017029528.1:c.866T>A, NP_004033.2:p.Ile272Asn, NP_001188468.1:p.Ile272Asn, NP_001188467.1:p.Ile272Asn, XP_011543824.1:p.Ile289Asn, XP_011543825.1:p.Ile289Asn, XP_011543826.1:p.Ile289Asn, XP_016885017.1:p.Ile289Asn

Select item 141722567020.

rs1417225670 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:3076570 (GRCh38)
X:2994611 (GRCh37)
Canonical SPDI:: NC_000023.11:3076569:G:C
Gene:: ARSF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000006/1 (GnomAD_exomes)
C=0.00009/1 (TOMMO)
HGVS:: NC_000023.11:g.3076570G>C, NC_000023.10:g.2994611G>C, NG_012822.2:g.41337G>C, NM_004042.5:c.184G>C, NM_004042.4:c.184G>C, NM_001201539.2:c.184G>C, NM_001201539.1:c.184G>C, NM_001201538.2:c.184G>C, NM_001201538.1:c.184G>C, XM_011545522.2:c.235G>C, XM_011545522.1:c.235G>C, XM_011545523.2:c.235G>C, XM_011545523.1:c.235G>C, XM_011545524.2:c.235G>C, XM_011545524.1:c.235G>C, XM_017029528.1:c.235G>C, NP_004033.2:p.Ala62Pro, NP_001188468.1:p.Ala62Pro, NP_001188467.1:p.Ala62Pro, XP_011543824.1:p.Ala79Pro, XP_011543825.1:p.Ala79Pro, XP_011543826.1:p.Ala79Pro, XP_016885017.1:p.Ala79Pro

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