Linked Data
ClinVar Variation Id:
1356498
ClinVar RCV Id:
RCV001876740
dbSNP Id:
rs762335852
ExAC:
11:62381078 G / A
gnomAD v2:
11-62381078-G-A
gnomAD v4:
11-62613606-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62613606G>A , CM000673.2:g.62613606G>A | GRCh38 |
| NC_000011.9:g.62381078G>A , CM000673.1:g.62381078G>A | GRCh37 |
| NC_000011.8:g.62137654G>A | NCBI36 |
| NG_009845.1:g.5866G>A | |
| NG_031863.1:g.13570C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278833.4:c.325G>A MANE Select | ENSP00000278833.3:p.Ala109Thr | |
| ENST00000278833.3:c.325G>A | ENSP00000278833.3:p.Ala109Thr | |
| ENST00000525801.1:c.-38-652G>A | ENSP00000433566.1:n.-38-652G>A | |
| ENST00000525947.1:c.-208G>A | ENSP00000432983.1:n.-208G>A | |
| ENST00000534093.5:c.-38-652G>A | ENSP00000432151.1:n.-38-652G>A | |
| NM_000327.3:c.325G>A | NP_000318.1:p.Ala109Thr | |
| NM_000327.4:c.325G>A MANE Select | NP_000318.2:p.Ala109Thr |