Linked Data
ClinVar Variation Id:
327315
ClinVar RCV Id:
RCV000347045
dbSNP Id:
rs139119026
gnomAD v2:
18-55212143-A-C
gnomAD v3:
18-57544911-A-C
gnomAD v4:
18-57544911-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.57544911A>C , CM000680.2:g.57544911A>C | GRCh38 |
| NC_000018.9:g.55212143A>C , CM000680.1:g.55212143A>C | GRCh37 |
| NC_000018.8:g.53363141A>C | NCBI36 |
| NG_008175.1:g.46827T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262093.11:c.*5801T>G MANE Select | ENSP00000262093.6:n.*5801T>G | |
| ENST00000652755.1:c.*5801T>G | ENSP00000498358.1:n.*5801T>G | |
| NM_000140.3:c.*5801T>G | NP_000131.2:n.*5801T>G | |
| NM_001012515.2:c.*5801T>G | NP_001012533.1:n.*5801T>G | |
| NM_000140.4:c.*5801T>G | NP_000131.2:n.*5801T>G | |
| NM_001012515.3:c.*5801T>G | NP_001012533.1:n.*5801T>G | |
| NM_000140.5:c.*5801T>G MANE Select | NP_000131.2:n.*5801T>G | |
| NM_001012515.4:c.*5801T>G | NP_001012533.1:n.*5801T>G | |
| NM_001371094.1:c.*5801T>G | NP_001358023.1:n.*5801T>G | |
| NM_001371095.1:c.*5801T>G | NP_001358024.1:n.*5801T>G | |
| NM_001374778.1:c.*5801T>G | NP_001361707.1:n.*5801T>G |