Linked Data
ClinVar Variation Id:
197230
dbSNP Id:
rs141553918
ExAC:
14:92488106 C / A
gnomAD v2:
14-92488106-C-A
gnomAD v3:
14-92021762-C-A
gnomAD v4:
14-92021762-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92021762C>A , CM000676.2:g.92021762C>A | GRCh38 |
| NC_000014.8:g.92488106C>A , CM000676.1:g.92488106C>A | GRCh37 |
| NC_000014.7:g.91557859C>A | NCBI36 |
| NG_016970.1:g.23298G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267622.8:c.382G>T MANE Select | ENSP00000267622.4:p.Ala128Ser | |
| ENST00000555516.6:c.-102G>T | ENSP00000451944.1:n.-102G>T | |
| NM_004239.3:c.382G>T | NP_004230.2:p.Ala128Ser | |
| XM_005268215.2:c.382G>T | XP_005268272.1:p.Ala128Ser | |
| XM_006720321.2:c.379G>T | XP_006720384.1:p.Ala127Ser | |
| XM_011537361.1:c.382G>T | XP_011535663.1:p.Ala128Ser | |
| XR_943560.1:n.837G>T | ||
| NM_001321851.1:c.379G>T | NP_001308780.1:p.Ala127Ser | |
| NM_004239.4:c.382G>T MANE Select | NP_004230.2:p.Ala128Ser | |
| XM_017021787.2:c.-365G>T | XP_016877276.1:n.-365G>T | |
| XM_017021788.2:c.-817G>T | XP_016877277.1:n.-817G>T | |
| XR_001750598.2:n.831G>T | ||
| XR_943560.2:n.831G>T |