Linked Data
ClinVar Variation Id:
364286
ClinVar RCV Id:
RCV000281093
dbSNP Id:
rs886063286
gnomAD v3:
9-101385003-G-A
gnomAD v4:
9-101385003-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101385003G>A , CM000671.2:g.101385003G>A | GRCh38 |
| NC_000009.11:g.104147285G>A , CM000671.1:g.104147285G>A | GRCh37 |
| NC_000009.10:g.103187106G>A | NCBI36 |
| NG_009774.1:g.5003C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259407.7:c.-208C>T MANE Select | ENSP00000259407.2:n.-208C>T | |
| ENST00000674791.1:c.-208C>T | ENSP00000501644.1:n.-208C>T | |
| NM_001701.3:c.-208C>T | NP_001692.1:n.-208C>T | |
| NM_001701.4:c.-208C>T MANE Select | NP_001692.1:n.-208C>T |