Linked Data
ClinVar Variation Id:
2381444
ClinVar RCV Id:
RCV002674373
dbSNP Id:
rs781566508
ExAC:
1:209790771 G / T
gnomAD v2:
1-209790771-G-T
gnomAD v4:
1-209617426-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209617426G>T , CM000663.2:g.209617426G>T | GRCh38 |
| NC_000001.10:g.209790771G>T , CM000663.1:g.209790771G>T | GRCh37 |
| NC_000001.9:g.207857394G>T | NCBI36 |
| NG_007116.1:g.40050C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356082.9:c.3212C>A MANE Select | ENSP00000348384.3:p.Ala1071Glu | |
| ENST00000356082.8:c.3212C>A | ENSP00000348384.3:p.Ala1071Glu | |
| ENST00000367030.7:c.3212C>A | ENSP00000355997.3:p.Ala1071Glu | |
| ENST00000391911.5:c.3212C>A | ENSP00000375778.1:p.Ala1071Glu | |
| ENST00000455193.1:c.419C>A | ENSP00000398683.1:p.Ala140Glu | |
| NM_000228.2:c.3212C>A | NP_000219.2:p.Ala1071Glu | |
| NM_001017402.1:c.3212C>A | NP_001017402.1:p.Ala1071Glu | |
| NM_001127641.1:c.3212C>A | NP_001121113.1:p.Ala1071Glu | |
| XM_005273124.3:c.3212C>A | XP_005273181.1:p.Ala1071Glu | |
| XM_005273124.4:c.3212C>A | XP_005273181.1:p.Ala1071Glu | |
| XM_017001272.2:c.3020C>A | XP_016856761.1:p.Ala1007Glu | |
| NM_000228.3:c.3212C>A MANE Select | NP_000219.2:p.Ala1071Glu | |
| NM_001017402.2:c.3212C>A | NP_001017402.1:p.Ala1071Glu |