Linked Data
dbSNP Id:
rs1047402006
gnomAD v2:
X-8700130-T-A
gnomAD v3:
X-8732089-T-A
gnomAD v4:
X-8732089-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8732089T>A , CM000685.2:g.8732089T>A | GRCh38 |
| NC_000023.10:g.8700130T>A , CM000685.1:g.8700130T>A | GRCh37 |
| NC_000023.9:g.8660130T>A | NCBI36 |
| NG_007088.1:g.5098A>T | |
| NG_007088.2:g.5098A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262648.8:c.-53A>T MANE Select | ENSP00000262648.3:n.-53A>T | |
| ENST00000262648.7:c.-53A>T | ENSP00000262648.3:n.-53A>T | |
| ENST00000619786.1:c.-53A>T | ENSP00000478734.1:n.-53A>T | |
| NM_000216.2:c.-53A>T | NP_000207.2:n.-53A>T | |
| XM_005274501.3:c.-53A>T | XP_005274558.1:n.-53A>T | |
| NM_000216.3:c.-53A>T | NP_000207.2:n.-53A>T | |
| XM_005274501.4:c.-53A>T | XP_005274558.1:n.-53A>T | |
| NM_000216.4:c.-53A>T MANE Select | NP_000207.2:n.-53A>T |