Linked Data
ClinVar Variation Id:
10473
dbSNP Id:
rs137852304
ExAC:
X:55047609 C / T
gnomAD v2:
X-55047609-C-T
gnomAD v4:
X-55021176-C-T
PubMed:
PMID:7560104
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.55021176C>T , CM000685.2:g.55021176C>T | GRCh38 |
| NC_000023.10:g.55047609C>T , CM000685.1:g.55047609C>T | GRCh37 |
| NC_000023.9:g.55064334C>T | NCBI36 |
| NG_008983.1:g.14889G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000455688.2:c.298G>A | ENSP00000407204.2:p.Ala100Thr | |
| ENST00000477869.6:c.187G>A | ENSP00000496725.1:p.Ala63Thr | |
| ENST00000493869.2:c.305-672G>A | ENSP00000495713.1:n.305-672G>A | |
| ENST00000650242.1:c.514G>A MANE Select | ENSP00000497236.1:p.Ala172Thr | |
| ENST00000330807.9:c.514G>A | ENSP00000332369.5:p.Ala172Thr | |
| ENST00000335854.8:c.403G>A | ENSP00000337131.4:p.Ala135Thr | |
| ENST00000396198.7:c.475G>A | ENSP00000379501.3:p.Ala159Thr | |
| ENST00000455688.1:c.369G>A | ||
| ENST00000463868.5:n.356-672G>A | ||
| ENST00000477869.5:n.258G>A | ||
| ENST00000493869.1:n.454G>A | ||
| NM_000032.4:c.514G>A | NP_000023.2:p.Ala172Thr | |
| NM_001037967.3:c.403G>A | NP_001033056.1:p.Ala135Thr | |
| NM_001037968.3:c.475G>A | NP_001033057.1:p.Ala159Thr | |
| XM_005261995.2:c.586G>A | XP_005262052.1:p.Ala196Thr | |
| XM_011530771.1:c.-223-672G>A | XP_011529073.1:n.-223-672G>A | |
| NM_000032.5:c.514G>A MANE Select | NP_000023.2:p.Ala172Thr | |
| NM_001037967.4:c.403G>A | NP_001033056.1:p.Ala135Thr | |
| NM_001037968.4:c.475G>A | NP_001033057.1:p.Ala159Thr |