Linked Data
dbSNP Id:
rs35074907
ExAC:
19:10600418 G / A
gnomAD v2:
19-10600418-G-A
gnomAD v3:
19-10489742-G-A
gnomAD v4:
19-10489742-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10489742G>A , CM000681.2:g.10489742G>A | GRCh38 |
| NC_000019.9:g.10600418G>A , CM000681.1:g.10600418G>A | GRCh37 |
| NC_000019.8:g.10461418G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000171111.10:c.1437C>T MANE Select | ENSP00000171111.4:p.Asp479= | |
| ENST00000171111.9:c.1437C>T | ENSP00000171111.4:p.Asp479= | |
| ENST00000393623.6:c.1437C>T | ENSP00000377245.1:p.Asp479= | |
| ENST00000590593.1:c.305-374C>T | ||
| ENST00000592478.5:c.256C>T | ||
| NM_012289.3:c.1437C>T | NP_036421.2:p.Asp479= | |
| NM_203500.1:c.1437C>T | NP_987096.1:p.Asp479= | |
| XM_005260173.1:c.1437C>T | XP_005260230.1:p.Asp479= | |
| XM_005260174.1:c.1437C>T | XP_005260231.1:p.Asp479= | |
| XM_011528452.1:c.1437C>T | XP_011526754.1:p.Asp479= | |
| NM_203500.2:c.1437C>T MANE Select | NP_987096.1:p.Asp479= | |
| NM_012289.4:c.1437C>T | NP_036421.2:p.Asp479= |