Linked Data
ClinVar Variation Id:
1052415
ClinVar RCV Id:
RCV001360593
dbSNP Id:
rs201612485
ExAC:
15:33765647 G / A
gnomAD v2:
15-33765647-G-A
gnomAD v3:
15-33473446-G-A
gnomAD v4:
15-33473446-G-A
COSMIC:
COSM185378
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.33473446G>A , CM000677.2:g.33473446G>A | GRCh38 |
| NC_000015.9:g.33765647G>A , CM000677.1:g.33765647G>A | GRCh37 |
| NC_000015.8:g.31552939G>A | NCBI36 |
| NG_047076.1:g.167664G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634891.2:c.79G>A MANE Select | ENSP00000489262.1:p.Ala27Thr | |
| ENST00000389232.9:c.79G>A | ENSP00000373884.5:p.Ala27Thr | |
| ENST00000415757.7:c.79G>A | ENSP00000399610.3:p.Ala27Thr | |
| ENST00000622037.1:c.79G>A | ENSP00000483166.1:p.Ala27Thr | |
| ENST00000634418.1:c.79G>A | ENSP00000489529.1:p.Ala27Thr | |
| ENST00000634750.1:c.30-30185G>A | ||
| ENST00000634891.1:c.79G>A | ENSP00000489262.1:p.Ala27Thr | |
| NM_001036.4:c.79G>A | NP_001027.3:p.Ala27Thr | |
| NM_001243996.2:c.79G>A | NP_001230925.1:p.Ala27Thr | |
| XM_011521880.1:c.79G>A | XP_011520182.1:p.Ala27Thr | |
| XM_011521880.2:c.79G>A | XP_011520182.1:p.Ala27Thr | |
| XM_017022468.1:c.79G>A | XP_016877957.1:p.Ala27Thr | |
| XM_017022469.1:c.79G>A | XP_016877958.1:p.Ala27Thr | |
| XM_017022470.2:c.76G>A | XP_016877959.1:p.Ala26Thr | |
| XM_017022471.1:c.79G>A | XP_016877960.1:p.Ala27Thr | |
| XM_017022472.1:c.79G>A | XP_016877961.1:p.Ala27Thr | |
| XM_017022473.1:c.79G>A | XP_016877962.1:p.Ala27Thr | |
| XM_017022474.1:c.58G>A | XP_016877963.1:p.Ala20Thr | |
| XM_017022475.1:c.79G>A | XP_016877964.1:p.Ala27Thr | |
| XM_017022476.1:c.79G>A | XP_016877965.1:p.Ala27Thr | |
| XM_017022477.1:c.79G>A | XP_016877966.1:p.Ala27Thr | |
| XM_024450015.1:c.79G>A | XP_024305783.1:p.Ala27Thr | |
| XM_024450016.1:c.79G>A | XP_024305784.1:p.Ala27Thr | |
| XR_001751369.1:n.351G>A | ||
| XR_001751370.1:n.351G>A | ||
| XR_001751371.2:n.351G>A | ||
| NM_001036.5:c.79G>A | NP_001027.3:p.Ala27Thr | |
| NM_001243996.3:c.79G>A | NP_001230925.1:p.Ala27Thr | |
| NM_001036.6:c.79G>A MANE Select | NP_001027.3:p.Ala27Thr | |
| NM_001243996.4:c.79G>A | NP_001230925.1:p.Ala27Thr |