Linked Data
ClinVar Variation Id:
1109234
ClinVar RCV Id:
RCV001435038
dbSNP Id:
rs201802621
ExAC:
X:38226615 G / C
gnomAD v2:
X-38226615-G-C
gnomAD v4:
X-38367362-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38367362G>C , CM000685.2:g.38367362G>C | GRCh38 |
| NC_000023.10:g.38226615G>C , CM000685.1:g.38226615G>C | GRCh37 |
| NC_000023.9:g.38111559G>C | NCBI36 |
| NG_008471.1:g.19880G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.149G>C MANE Select | ENSP00000039007.4:p.Gly50Ala | |
| ENST00000643344.1:c.149G>C | ENSP00000496606.1:p.Gly50Ala | |
| ENST00000039007.4:c.149G>C | ENSP00000039007.4:p.Gly50Ala | |
| ENST00000465127.1:c.172-298759G>C | ENSP00000417050.1:n.172-298759G>C | |
| ENST00000488812.1:n.241G>C | ||
| NM_000531.5:c.149G>C | NP_000522.3:p.Gly50Ala | |
| XM_017029556.1:c.149G>C | XP_016885045.1:p.Gly50Ala | |
| NM_000531.6:c.149G>C MANE Select | NP_000522.3:p.Gly50Ala |