Linked Data
dbSNP Id:
rs782248153
ExAC:
X:49957649 C / G
gnomAD v2:
X-49957649-C-G
gnomAD v3:
X-50192998-C-G
gnomAD v4:
X-50192998-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50192998C>G , CM000685.2:g.50192998C>G | GRCh38 |
| NC_000023.10:g.49957649C>G , CM000685.1:g.49957649C>G | GRCh37 |
| NC_000023.9:g.49844389C>G | NCBI36 |
| NG_012552.1:g.13016G>C | |
| NG_012552.2:g.13016G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358526.7:c.1715G>C MANE Select | ENSP00000351327.2:p.Gly572Ala | |
| ENST00000358526.6:c.1715G>C | ENSP00000351327.2:p.Gly572Ala | |
| ENST00000376064.7:c.1688G>C | ENSP00000365232.3:p.Gly563Ala | |
| ENST00000448865.5:c.566G>C | ENSP00000402403.1:p.Gly189Ala | |
| ENST00000481402.5:n.1827G>C | ||
| NM_003886.2:c.1715G>C | NP_003877.2:p.Gly572Ala | |
| NM_139289.1:c.1688G>C | NP_647450.1:p.Gly563Ala | |
| NM_003886.3:c.1715G>C MANE Select | NP_003877.2:p.Gly572Ala | |
| NM_139289.2:c.1688G>C | NP_647450.1:p.Gly563Ala |