Linked Data
dbSNP Id:
rs1279517400
gnomAD v2:
X-8699922-C-T
gnomAD v3:
X-8731881-C-T
gnomAD v4:
X-8731881-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8731881C>T , CM000685.2:g.8731881C>T | GRCh38 |
| NC_000023.10:g.8699922C>T , CM000685.1:g.8699922C>T | GRCh37 |
| NC_000023.9:g.8659922C>T | NCBI36 |
| NG_007088.1:g.5306G>A | |
| NG_007088.2:g.5306G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262648.8:c.156G>A MANE Select | ENSP00000262648.3:p.Arg52= | |
| ENST00000262648.7:c.156G>A | ENSP00000262648.3:p.Arg52= | |
| ENST00000619786.1:c.153G>A | ENSP00000478734.1:p.Arg51= | |
| NM_000216.2:c.156G>A | NP_000207.2:p.Arg52= | |
| XM_005274501.3:c.156G>A | XP_005274558.1:p.Arg52= | |
| NM_000216.3:c.156G>A | NP_000207.2:p.Arg52= | |
| XM_005274501.4:c.156G>A | XP_005274558.1:p.Arg52= | |
| NM_000216.4:c.156G>A MANE Select | NP_000207.2:p.Arg52= |