Linked Data
ClinVar Variation Id:
327372
ClinVar RCV Id:
RCV000337567
dbSNP Id:
rs886053977
gnomAD v3:
18-57548113-G-A
gnomAD v4:
18-57548113-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.57548113G>A , CM000680.2:g.57548113G>A | GRCh38 |
| NC_000018.9:g.55215345G>A , CM000680.1:g.55215345G>A | GRCh37 |
| NC_000018.8:g.53366343G>A | NCBI36 |
| NG_008175.1:g.43625C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262093.11:c.*2599C>T MANE Select | ENSP00000262093.6:n.*2599C>T | |
| ENST00000652755.1:c.*2599C>T | ENSP00000498358.1:n.*2599C>T | |
| NM_000140.3:c.*2599C>T | NP_000131.2:n.*2599C>T | |
| NM_001012515.2:c.*2599C>T | NP_001012533.1:n.*2599C>T | |
| NM_000140.4:c.*2599C>T | NP_000131.2:n.*2599C>T | |
| NM_001012515.3:c.*2599C>T | NP_001012533.1:n.*2599C>T | |
| NM_000140.5:c.*2599C>T MANE Select | NP_000131.2:n.*2599C>T | |
| NM_001012515.4:c.*2599C>T | NP_001012533.1:n.*2599C>T | |
| NM_001371094.1:c.*2599C>T | NP_001358023.1:n.*2599C>T | |
| NM_001371095.1:c.*2599C>T | NP_001358024.1:n.*2599C>T | |
| NM_001374778.1:c.*2599C>T | NP_001361707.1:n.*2599C>T |