Linked Data
ClinVar Variation Id:
1806011
ClinVar RCV Id:
RCV002470295
dbSNP Id:
rs1556909422
gnomAD v2:
X-53561125-C-T
gnomAD v4:
X-53534164-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53534164C>T , CM000685.2:g.53534164C>T | GRCh38 |
| NC_000023.10:g.53561125C>T , CM000685.1:g.53561125C>T | GRCh37 |
| NC_000023.9:g.53577850C>T | NCBI36 |
| NG_016261.2:g.157570G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704099.1:c.12649G>A | ENSP00000515693.1:p.Asp4217Asn | |
| ENST00000262854.11:c.12865G>A MANE Select | ENSP00000262854.6:p.Asp4289Asn | |
| ENST00000262854.10:c.12865G>A | ENSP00000262854.6:p.Asp4289Asn | |
| ENST00000342160.7:c.12865G>A | ENSP00000340648.3:p.Asp4289Asn | |
| ENST00000426907.5:c.3332G>A | ||
| ENST00000488459.1:n.178G>A | ||
| ENST00000612484.4:c.12838G>A | ENSP00000479451.1:p.Asp4280Asn | |
| NM_031407.6:c.12865G>A | NP_113584.3:p.Asp4289Asn | |
| XM_005261965.2:c.12865G>A | XP_005262022.1:p.Asp4289Asn | |
| XM_011530746.1:c.13114G>A | XP_011529048.1:p.Asp4372Asn | |
| XM_011530747.1:c.13114G>A | XP_011529049.1:p.Asp4372Asn | |
| XM_011530748.1:c.13114G>A | XP_011529050.1:p.Asp4372Asn | |
| XM_011530749.1:c.13114G>A | XP_011529051.1:p.Asp4372Asn | |
| XM_011530750.1:c.13114G>A | XP_011529052.1:p.Asp4372Asn | |
| XM_011530751.1:c.13114G>A | XP_011529053.1:p.Asp4372Asn | |
| XM_011530752.1:c.13111G>A | XP_011529054.1:p.Asp4371Asn | |
| XM_011530753.1:c.13069G>A | XP_011529055.1:p.Asp4357Asn | |
| XM_011530754.1:c.13066G>A | XP_011529056.1:p.Asp4356Asn | |
| XM_011530755.1:c.13063G>A | XP_011529057.1:p.Asp4355Asn | |
| XM_011530756.1:c.13015G>A | XP_011529058.1:p.Asp4339Asn | |
| XM_011530757.1:c.12712G>A | XP_011529059.1:p.Asp4238Asn | |
| XM_005261965.4:c.12865G>A | XP_005262022.1:p.Asp4289Asn | |
| XM_011530751.2:c.13114G>A | XP_011529053.1:p.Asp4372Asn | |
| XM_017029191.1:c.13246G>A | XP_016884680.1:p.Asp4416Asn | |
| XM_017029192.1:c.13243G>A | XP_016884681.1:p.Asp4415Asn | |
| XM_017029193.1:c.13225G>A | XP_016884682.1:p.Asp4409Asn | |
| XM_017029194.1:c.13201G>A | XP_016884683.1:p.Asp4401Asn | |
| XM_017029195.1:c.13198G>A | XP_016884684.1:p.Asp4400Asn | |
| XM_017029196.1:c.13195G>A | XP_016884685.1:p.Asp4399Asn | |
| XM_017029197.1:c.13147G>A | XP_016884686.1:p.Asp4383Asn | |
| XM_017029198.2:c.13135G>A | XP_016884687.1:p.Asp4379Asn | |
| XM_017029199.1:c.13135G>A | XP_016884688.1:p.Asp4379Asn | |
| XM_017029200.1:c.13135G>A | XP_016884689.1:p.Asp4379Asn | |
| XM_017029201.1:c.13135G>A | XP_016884690.1:p.Asp4379Asn | |
| XM_017029202.1:c.13135G>A | XP_016884691.1:p.Asp4379Asn | |
| XM_017029203.1:c.13135G>A | XP_016884692.1:p.Asp4379Asn | |
| XM_017029204.1:c.12997G>A | XP_016884693.1:p.Asp4333Asn | |
| XM_017029206.1:c.12844G>A | XP_016884695.1:p.Asp4282Asn | |
| XM_024452322.1:c.13114G>A | XP_024308090.1:p.Asp4372Asn | |
| NM_031407.7:c.12865G>A MANE Select | NP_113584.3:p.Asp4289Asn |