Linked Data
ClinVar Variation Id:
217148
dbSNP Id:
rs774048743
ExAC:
15:42652136 G / A
gnomAD v2:
15-42652136-G-A
gnomAD v3:
15-42359938-G-A
gnomAD v4:
15-42359938-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42359938G>A , CM000677.2:g.42359938G>A | GRCh38 |
| NC_000015.9:g.42652136G>A , CM000677.1:g.42652136G>A | GRCh37 |
| NC_000015.8:g.40439428G>A | NCBI36 |
| NG_008660.1:g.16836G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349748.8:c.133G>A | ENSP00000183936.4:p.Ala45Thr | |
| ENST00000357568.8:c.133G>A | ENSP00000350181.3:p.Ala45Thr | |
| ENST00000397163.8:c.133G>A MANE Select | ENSP00000380349.3:p.Ala45Thr | |
| ENST00000466369.5:n.540+5485G>A | ||
| ENST00000483208.5:n.540+5485G>A | ||
| ENST00000495723.1:n.540+5485G>A | ||
| ENST00000549793.5:n.540+5485G>A | ||
| ENST00000318023.11:c.133G>A | ENSP00000326281.8:p.Ala45Thr | |
| ENST00000349748.7:c.133G>A | ENSP00000183936.4:p.Ala45Thr | |
| ENST00000357568.7:c.133G>A | ENSP00000350181.3:p.Ala45Thr | |
| ENST00000397163.7:c.133G>A | ENSP00000380349.3:p.Ala45Thr | |
| NM_000070.2:c.133G>A | NP_000061.1:p.Ala45Thr | |
| NM_024344.1:c.133G>A | NP_077320.1:p.Ala45Thr | |
| NM_173087.1:c.133G>A | NP_775110.1:p.Ala45Thr | |
| NM_000070.3:c.133G>A MANE Select | NP_000061.1:p.Ala45Thr | |
| NM_024344.2:c.133G>A | NP_077320.1:p.Ala45Thr | |
| NM_173087.2:c.133G>A | NP_775110.1:p.Ala45Thr |