Linked Data
ClinVar Variation Id:
327360
ClinVar RCV Id:
RCV000304874
dbSNP Id:
rs556538397
gnomAD v2:
18-55214377-C-T
gnomAD v3:
18-57547145-C-T
gnomAD v4:
18-57547145-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.57547145C>T , CM000680.2:g.57547145C>T | GRCh38 |
| NC_000018.9:g.55214377C>T , CM000680.1:g.55214377C>T | GRCh37 |
| NC_000018.8:g.53365375C>T | NCBI36 |
| NG_008175.1:g.44593G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262093.11:c.*3567G>A MANE Select | ENSP00000262093.6:n.*3567G>A | |
| ENST00000652755.1:c.*3567G>A | ENSP00000498358.1:n.*3567G>A | |
| NM_000140.3:c.*3567G>A | NP_000131.2:n.*3567G>A | |
| NM_001012515.2:c.*3567G>A | NP_001012533.1:n.*3567G>A | |
| NM_000140.4:c.*3567G>A | NP_000131.2:n.*3567G>A | |
| NM_001012515.3:c.*3567G>A | NP_001012533.1:n.*3567G>A | |
| NM_000140.5:c.*3567G>A MANE Select | NP_000131.2:n.*3567G>A | |
| NM_001012515.4:c.*3567G>A | NP_001012533.1:n.*3567G>A | |
| NM_001371094.1:c.*3567G>A | NP_001358023.1:n.*3567G>A | |
| NM_001371095.1:c.*3567G>A | NP_001358024.1:n.*3567G>A | |
| NM_001374778.1:c.*3567G>A | NP_001361707.1:n.*3567G>A |