Linked Data
ClinVar Variation Id:
1039463
ClinVar RCV Id:
RCV001342942
dbSNP Id:
rs1821227724
gnomAD v4:
9-32550791-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32550791C>T , CM000671.2:g.32550791C>T | GRCh38 |
| NC_000009.11:g.32550789C>T , CM000671.1:g.32550789C>T | GRCh37 |
| NC_000009.10:g.32540789C>T | NCBI36 |
| NG_017050.1:g.6834G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360538.7:c.181G>A MANE Select | ENSP00000353735.2:p.Ala61Thr | |
| ENST00000680198.1:c.181G>A | ENSP00000505143.1:p.Ala61Thr | |
| ENST00000681750.1:c.-62G>A | ENSP00000506413.1:n.-62G>A | |
| ENST00000360538.6:c.181G>A | ENSP00000353735.2:p.Ala61Thr | |
| ENST00000379858.1:c.3+1643G>A | ENSP00000369187.1:n.3+1643G>A | |
| NM_001195622.1:c.3+1643G>A | NP_001182551.1:n.3+1643G>A | |
| NM_005802.4:c.181G>A | NP_005793.2:p.Ala61Thr | |
| NM_005802.5:c.181G>A MANE Select | NP_005793.2:p.Ala61Thr | |
| NM_001195622.2:c.3+1643G>A | NP_001182551.1:n.3+1643G>A |