COSMIC:
COSM1453718 (not active)
Revel Score:
ENST00000522566
0.107
ENST00000358755 (MANE Select)
0.107
ENST00000523739
0.107
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3170335 (MID)
Genomes Max Group AF
0.25973239 (NFE)
Exomes Max Group AF
0.31453019 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.103300204A>G , CM000670.2:g.103300204A>G | GRCh38 |
| NC_000008.10:g.104312432A>G , CM000670.1:g.104312432A>G | GRCh37 |
| NC_000008.9:g.104381608A>G | NCBI36 |
| NG_028909.1:g.6772A>G | |
| NG_028909.2:g.4211A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358755.5:c.97A>G MANE Select | ENSP00000351605.4:p.Met33Val | |
| ENST00000358755.4:c.97A>G | ENSP00000351605.4:p.Met33Val | |
| ENST00000519011.5:c.97A>G | ENSP00000427733.1:p.Met33Val | |
| ENST00000521195.1:c.97A>G | ENSP00000428188.1:p.Met33Val | |
| ENST00000522484.5:c.97A>G | ENSP00000428301.1:p.Met33Val | |
| ENST00000522566.5:c.97A>G | ENSP00000429055.1:p.Met33Val | |
| ENST00000523739.5:c.1A>G | ENSP00000429528.1:p.Met1Val | |
| ENST00000523933.5:c.1A>G | ENSP00000428257.1:p.Met1Val | |
| NM_001164615.1:c.97A>G | NP_001158087.1:p.Met33Val | |
| NM_001164616.1:c.1A>G | NP_001158088.1:p.Met1Val | |
| NM_003506.3:c.97A>G | NP_003497.2:p.Met33Val | |
| XR_428385.2:n.347A>G | ||
| NM_001317796.1:c.-49A>G | NP_001304725.1:n.-49A>G | |
| NR_133921.1:n.414A>G | ||
| NM_003506.4:c.97A>G MANE Select | NP_003497.2:p.Met33Val | |
| NM_001164615.2:c.97A>G | NP_001158087.1:p.Met33Val | |
| NM_001164616.2:c.1A>G | NP_001158088.1:p.Met1Val | |
| NM_001317796.2:c.-49A>G | NP_001304725.1:n.-49A>G | |
| NR_133921.2:n.414A>G |