Linked Data
ClinVar Variation Id:
10925
dbSNP Id:
rs137854590
gnomAD v4:
X-37793793-G-A
PubMed:
PMID:1710153
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37793793G>A , CM000685.2:g.37793793G>A | GRCh38 |
| NC_000023.10:g.37653046G>A , CM000685.1:g.37653046G>A | GRCh37 |
| NC_000023.9:g.37537986G>A | NCBI36 |
| NG_009065.1:g.18773G>A , LRG_53:g.18773G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696170.1:c.337+1734G>A | ENSP00000512461.1:n.337+1734G>A | |
| ENST00000696171.1:c.370G>A | ENSP00000512462.1:p.Ala124Thr | |
| ENST00000696172.1:c.337+1734G>A | ENSP00000512463.1:n.337+1734G>A | |
| ENST00000378588.5:c.466G>A MANE Select | ENSP00000367851.4:p.Ala156Thr | |
| ENST00000378588.4:c.466G>A | ENSP00000367851.4:p.Ala156Thr | |
| ENST00000465127.1:c.171+367793G>A | ENSP00000417050.1:n.171+367793G>A | |
| NM_000397.3:c.466G>A , LRG_53t1:c.466G>A | NP_000388.2:p.Ala156Thr | |
| XM_011543890.1:c.160G>A | XP_011542192.1:p.Ala54Thr | |
| NM_000397.4:c.466G>A MANE Select | NP_000388.2:p.Ala156Thr |