Linked Data
dbSNP Id:
rs1357048997
gnomAD v2:
X-8700116-G-A
gnomAD v3:
X-8732075-G-A
gnomAD v4:
X-8732075-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8732075G>A , CM000685.2:g.8732075G>A | GRCh38 |
| NC_000023.10:g.8700116G>A , CM000685.1:g.8700116G>A | GRCh37 |
| NC_000023.9:g.8660116G>A | NCBI36 |
| NG_007088.1:g.5112C>T | |
| NG_007088.2:g.5112C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262648.8:c.-39C>T MANE Select | ENSP00000262648.3:n.-39C>T | |
| ENST00000262648.7:c.-39C>T | ENSP00000262648.3:n.-39C>T | |
| ENST00000619786.1:c.-39C>T | ENSP00000478734.1:n.-39C>T | |
| NM_000216.2:c.-39C>T | NP_000207.2:n.-39C>T | |
| XM_005274501.3:c.-39C>T | XP_005274558.1:n.-39C>T | |
| NM_000216.3:c.-39C>T | NP_000207.2:n.-39C>T | |
| XM_005274501.4:c.-39C>T | XP_005274558.1:n.-39C>T | |
| NM_000216.4:c.-39C>T MANE Select | NP_000207.2:n.-39C>T |