Linked Data
dbSNP Id:
rs782216204
ExAC:
X:49957181 G / C
gnomAD v2:
X-49957181-G-C
gnomAD v4:
X-50192530-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50192530G>C , CM000685.2:g.50192530G>C | GRCh38 |
| NC_000023.10:g.49957181G>C , CM000685.1:g.49957181G>C | GRCh37 |
| NC_000023.9:g.49843921G>C | NCBI36 |
| NG_012552.1:g.13484C>G | |
| NG_012552.2:g.13484C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358526.7:c.2183C>G MANE Select | ENSP00000351327.2:p.Ala728Gly | |
| ENST00000358526.6:c.2183C>G | ENSP00000351327.2:p.Ala728Gly | |
| ENST00000376064.7:c.2156C>G | ENSP00000365232.3:p.Ala719Gly | |
| ENST00000481402.5:n.2295C>G | ||
| NM_003886.2:c.2183C>G | NP_003877.2:p.Ala728Gly | |
| NM_139289.1:c.2156C>G | NP_647450.1:p.Ala719Gly | |
| NM_003886.3:c.2183C>G MANE Select | NP_003877.2:p.Ala728Gly | |
| NM_139289.2:c.2156C>G | NP_647450.1:p.Ala719Gly |