Linked Data
dbSNP Id:
rs1329810583
gnomAD v2:
X-54521707-G-A
gnomAD v3:
X-54495274-G-A
gnomAD v4:
X-54495274-G-A
COSMIC:
COSM4110303
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54495274G>A , CM000685.2:g.54495274G>A | GRCh38 |
| NC_000023.10:g.54521707G>A , CM000685.1:g.54521707G>A | GRCh37 |
| NC_000023.9:g.54538432G>A | NCBI36 |
| NG_008054.1:g.5893C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375135.4:c.159C>T MANE Select | ENSP00000364277.3:p.Gly53= | |
| ENST00000375135.3:c.159C>T | ENSP00000364277.3:p.Gly53= | |
| NM_004463.2:c.159C>T | NP_004454.2:p.Gly53= | |
| NM_004463.3:c.159C>T MANE Select | NP_004454.2:p.Gly53= |