Linked Data
ClinVar Variation Id:
2659139
ClinVar RCV Id:
RCV003425646
dbSNP Id:
rs1412023992
gnomAD v2:
9-32550946-C-A
gnomAD v3:
9-32550948-C-A
gnomAD v4:
9-32550948-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32550948C>A , CM000671.2:g.32550948C>A | GRCh38 |
| NC_000009.11:g.32550946C>A , CM000671.1:g.32550946C>A | GRCh37 |
| NC_000009.10:g.32540946C>A | NCBI36 |
| NG_017050.1:g.6677G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360538.7:c.24G>T MANE Select | ENSP00000353735.2:p.Gly8= | |
| ENST00000680198.1:c.24G>T | ENSP00000505143.1:p.Gly8= | |
| ENST00000681750.1:c.-219G>T | ENSP00000506413.1:n.-219G>T | |
| ENST00000360538.6:c.24G>T | ENSP00000353735.2:p.Gly8= | |
| ENST00000379858.1:c.3+1486G>T | ENSP00000369187.1:n.3+1486G>T | |
| NM_001195622.1:c.3+1486G>T | NP_001182551.1:n.3+1486G>T | |
| NM_005802.4:c.24G>T | NP_005793.2:p.Gly8= | |
| NM_005802.5:c.24G>T MANE Select | NP_005793.2:p.Gly8= | |
| NM_001195622.2:c.3+1486G>T | NP_001182551.1:n.3+1486G>T |