Linked Data
ClinVar Variation Id:
361188
ClinVar RCV Id:
RCV000369061
dbSNP Id:
rs530449457
gnomAD v2:
8-10463961-A-T
gnomAD v3:
8-10606451-A-T
gnomAD v4:
8-10606451-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10606451A>T , CM000670.2:g.10606451A>T | GRCh38 |
| NC_000008.10:g.10463961A>T , CM000670.1:g.10463961A>T | GRCh37 |
| NC_000008.9:g.10501371A>T | NCBI36 |
| NG_028035.1:g.53657T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.*444T>A MANE Select | ENSP00000371923.3:n.*444T>A | |
| ENST00000382483.3:c.*444T>A | ENSP00000371923.3:n.*444T>A | |
| NM_178857.5:c.*444T>A | NP_849188.4:n.*444T>A | |
| NM_178857.6:c.*444T>A MANE Select | NP_849188.4:n.*444T>A |