Linked Data
ClinVar Variation Id:
318611
dbSNP Id:
rs758665573
ExAC:
16:2546294 G / A
gnomAD v2:
16-2546294-G-A
gnomAD v3:
16-2496293-G-A
gnomAD v4:
16-2496293-G-A
COSMIC:
COSM5342734
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2496293G>A , CM000678.2:g.2496293G>A | GRCh38 |
| NC_000016.9:g.2546294G>A , CM000678.1:g.2546294G>A | GRCh37 |
| NC_000016.8:g.2486295G>A | NCBI36 |
| NG_028170.1:g.26148G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000562105.2:c.145G>A | ENSP00000457896.2:p.Ala49Thr | |
| ENST00000567020.6:c.145G>A | ENSP00000454408.1:p.Ala49Thr | |
| ENST00000569874.2:c.145G>A | ENSP00000455005.2:p.Ala49Thr | |
| ENST00000643767.1:c.145G>A | ENSP00000494145.1:p.Ala49Thr | |
| ENST00000646147.1:c.145G>A MANE Select | ENSP00000494678.1:p.Ala49Thr | |
| ENST00000293970.9:c.145G>A | ENSP00000293970.5:p.Ala49Thr | |
| ENST00000562105.1:c.145G>A | ENSP00000457896.1:p.Ala49Thr | |
| ENST00000564543.1:c.145G>A | ENSP00000455547.1:p.Ala49Thr | |
| ENST00000567020.5:c.145G>A | ENSP00000454408.1:p.Ala49Thr | |
| ENST00000627285.1:c.145G>A | ENSP00000486121.1:p.Ala49Thr | |
| ENST00000630263.2:c.145G>A | ENSP00000486835.1:p.Ala49Thr | |
| NM_001199107.1:c.145G>A | NP_001186036.1:p.Ala49Thr | |
| NM_020705.2:c.145G>A | NP_065756.1:p.Ala49Thr | |
| XM_017023493.1:c.145G>A | XP_016878982.1:p.Ala49Thr | |
| XM_017023494.1:c.145G>A | XP_016878983.1:p.Ala49Thr | |
| XM_017023495.1:c.145G>A | XP_016878984.1:p.Ala49Thr | |
| XR_001751956.1:n.327G>A | ||
| NM_001199107.2:c.145G>A MANE Select | NP_001186036.1:p.Ala49Thr | |
| NM_020705.3:c.145G>A | NP_065756.1:p.Ala49Thr |