Linked Data
ClinVar Variation Id:
435445
dbSNP Id:
rs137852489
ExAC:
X:133620501 C / A
gnomAD v2:
X-133620501-C-A
gnomAD v3:
X-134486471-C-A
gnomAD v4:
X-134486471-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134486471C>A , CM000685.2:g.134486471C>A | GRCh38 |
| NC_000023.10:g.133620501C>A , CM000685.1:g.133620501C>A | GRCh37 |
| NC_000023.9:g.133448167C>A | NCBI36 |
| NG_012329.1:g.31327C>A | |
| NG_012329.2:g.31327C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298556.8:c.325C>A MANE Select | ENSP00000298556.7:p.Gln109Lys | |
| ENST00000298556.7:c.325C>A | ENSP00000298556.7:p.Gln109Lys | |
| ENST00000462974.5:n.483C>A | ||
| ENST00000475720.1:n.283C>A | ||
| NM_000194.2:c.325C>A | NP_000185.1:p.Gln109Lys | |
| XM_011531328.1:c.343C>A | XP_011529630.1:p.Gln115Lys | |
| NM_000194.3:c.325C>A MANE Select | NP_000185.1:p.Gln109Lys |