Linked Data
ClinVar Variation Id:
41942
dbSNP Id:
rs587776954
ExAC:
12:7053285 A / G
gnomAD v2:
12-7053285-A-G
gnomAD v3:
12-6944122-A-G
gnomAD v4:
12-6944122-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6944122A>G , CM000674.2:g.6944122A>G | GRCh38 |
| NC_000012.11:g.7053285A>G , CM000674.1:g.7053285A>G | GRCh37 |
| NC_000012.10:g.6923546A>G | NCBI36 |
| NG_008047.1:g.24660A>G | |
| NG_034262.1:g.5306A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229281.6:c.1A>G MANE Select | ENSP00000229281.5:p.Met1Val | |
| ENST00000229281.5:c.1A>G | ENSP00000229281.5:p.Met1Val | |
| ENST00000537087.5:c.1A>G | ENSP00000440937.1:p.Met1Val | |
| ENST00000538392.1:n.389-354A>G | ||
| ENST00000540506.2:c.-201A>G | ENSP00000475635.1:n.-201A>G | |
| ENST00000542222.1:n.231-354A>G | ||
| ENST00000544681.1:c.1A>G | ENSP00000475422.1:p.Met1Val | |
| ENST00000545581.5:c.1A>G | ENSP00000440602.1:p.Met1Val | |
| NM_001301834.1:c.1A>G | NP_001288763.1:p.Met1Val | |
| NM_001301836.1:c.14-354A>G | NP_001288765.1:n.14-354A>G | |
| NM_001301837.1:c.1A>G | NP_001288766.1:p.Met1Val | |
| NM_001301838.1:c.-201A>G | NP_001288767.1:n.-201A>G | |
| NM_138425.3:c.1A>G | NP_612434.1:p.Met1Val | |
| NR_126035.1:n.306A>G | ||
| NM_138425.4:c.1A>G MANE Select | NP_612434.1:p.Met1Val | |
| NM_001301836.2:c.14-354A>G | NP_001288765.1:n.14-354A>G | |
| NM_001301837.2:c.1A>G | NP_001288766.1:p.Met1Val | |
| NM_001301838.2:c.-201A>G | NP_001288767.1:n.-201A>G | |
| NR_126035.2:n.101A>G |