Linked Data
dbSNP Id:
rs772231944
ExAC:
X:25022919 G / C
gnomAD v2:
X-25022919-G-C
gnomAD v4:
X-25004802-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25004802G>C , CM000685.2:g.25004802G>C | GRCh38 |
| NC_000023.10:g.25022919G>C , CM000685.1:g.25022919G>C | GRCh37 |
| NC_000023.9:g.24932840G>C | NCBI36 |
| NG_008281.1:g.16147C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1557C>G MANE Select | ENSP00000368332.4:p.Asp519Glu | |
| ENST00000379044.4:c.1557C>G | ENSP00000368332.4:p.Asp519Glu | |
| NM_139058.2:c.1557C>G | NP_620689.1:p.Asp519Glu | |
| NM_139058.3:c.1557C>G MANE Select | NP_620689.1:p.Asp519Glu |