Linked Data
ClinVar Variation Id:
364848
ClinVar RCV Id:
RCV000373580
dbSNP Id:
rs181350173
gnomAD v2:
9-12693928-G-T
gnomAD v3:
9-12693928-G-T
gnomAD v4:
9-12693928-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12693928G>T , CM000671.2:g.12693928G>T | GRCh38 |
| NC_000009.11:g.12693928G>T , CM000671.1:g.12693928G>T | GRCh37 |
| NC_000009.10:g.12683928G>T | NCBI36 |
| NG_011705.1:g.5543G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388918.10:c.-69G>T MANE Select | ENSP00000373570.4:n.-69G>T | |
| ENST00000388918.9:c.-69G>T | ENSP00000373570.4:n.-69G>T | |
| ENST00000459790.1:n.187G>T | ||
| ENST00000473763.1:c.-69G>T | ENSP00000419006.1:n.-69G>T | |
| NM_000550.2:c.-69G>T | NP_000541.1:n.-69G>T | |
| XR_001746372.2:n.121G>T | ||
| NM_000550.3:c.-69G>T MANE Select | NP_000541.1:n.-69G>T |