Linked Data
ClinVar Variation Id:
314941
ClinVar RCV Id:
RCV000288620
dbSNP Id:
rs372272441
ExAC:
14:92469877 C / T
gnomAD v2:
14-92469877-C-T
gnomAD v3:
14-92003533-C-T
gnomAD v4:
14-92003533-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92003533C>T , CM000676.2:g.92003533C>T | GRCh38 |
| NC_000014.8:g.92469877C>T , CM000676.1:g.92469877C>T | GRCh37 |
| NC_000014.7:g.91539630C>T | NCBI36 |
| NG_016970.1:g.41527G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267622.8:c.4443G>A MANE Select | ENSP00000267622.4:p.Ala1481= | |
| ENST00000554357.5:c.3589G>A | ||
| NM_004239.3:c.4443G>A | NP_004230.2:p.Ala1481= | |
| XM_005268214.2:c.3117G>A | XP_005268271.1:p.Ala1039= | |
| XM_005268215.2:c.1528-3425G>A | XP_005268272.1:n.1528-3425G>A | |
| XM_006720321.2:c.4440G>A | XP_006720384.1:p.Ala1480= | |
| XM_011537361.1:c.4443G>A | XP_011535663.1:p.Ala1481= | |
| XR_943560.1:n.4898G>A | ||
| NM_001321851.1:c.4440G>A | NP_001308780.1:p.Ala1480= | |
| NM_004239.4:c.4443G>A MANE Select | NP_004230.2:p.Ala1481= | |
| XM_017021787.2:c.3738G>A | XP_016877276.1:p.Ala1246= | |
| XM_017021788.2:c.3117G>A | XP_016877277.1:p.Ala1039= | |
| XR_001750598.2:n.4892G>A | ||
| XR_943560.2:n.4892G>A |