Linked Data
dbSNP Id:
rs370641813
gnomAD v2:
X-8700224-C-T
gnomAD v3:
X-8732183-C-T
gnomAD v4:
X-8732183-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8732183C>T , CM000685.2:g.8732183C>T | GRCh38 |
| NC_000023.10:g.8700224C>T , CM000685.1:g.8700224C>T | GRCh37 |
| NC_000023.9:g.8660224C>T | NCBI36 |
| NG_007088.1:g.5004G>A | |
| NG_007088.2:g.5004G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262648.7:c.-147G>A | ENSP00000262648.3:n.-147G>A | |
| ENST00000619786.1:c.-147G>A | ENSP00000478734.1:n.-147G>A | |
| NM_000216.2:c.-147G>A | NP_000207.2:n.-147G>A | |
| NM_000216.3:c.-147G>A | NP_000207.2:n.-147G>A |