Linked Data
ClinVar Variation Id:
327364
ClinVar RCV Id:
RCV000365518
dbSNP Id:
rs137955859
gnomAD v2:
18-55214815-G-A
gnomAD v3:
18-57547583-G-A
gnomAD v4:
18-57547583-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.57547583G>A , CM000680.2:g.57547583G>A | GRCh38 |
| NC_000018.9:g.55214815G>A , CM000680.1:g.55214815G>A | GRCh37 |
| NC_000018.8:g.53365813G>A | NCBI36 |
| NG_008175.1:g.44155C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262093.11:c.*3129C>T MANE Select | ENSP00000262093.6:n.*3129C>T | |
| ENST00000652755.1:c.*3129C>T | ENSP00000498358.1:n.*3129C>T | |
| NM_000140.3:c.*3129C>T | NP_000131.2:n.*3129C>T | |
| NM_001012515.2:c.*3129C>T | NP_001012533.1:n.*3129C>T | |
| NM_000140.4:c.*3129C>T | NP_000131.2:n.*3129C>T | |
| NM_001012515.3:c.*3129C>T | NP_001012533.1:n.*3129C>T | |
| NM_000140.5:c.*3129C>T MANE Select | NP_000131.2:n.*3129C>T | |
| NM_001012515.4:c.*3129C>T | NP_001012533.1:n.*3129C>T | |
| NM_001371094.1:c.*3129C>T | NP_001358023.1:n.*3129C>T | |
| NM_001371095.1:c.*3129C>T | NP_001358024.1:n.*3129C>T | |
| NM_001374778.1:c.*3129C>T | NP_001361707.1:n.*3129C>T |