COSMIC:
COSM5626755 (not active)
Revel Score:
ENST00000331825 (MANE Select)
0.543
ENST00000397259
0.543
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000543 (NFE)
Exomes Max Group AF
0.00000531 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48965508A>G , CM000681.2:g.48965508A>G | GRCh38 |
| NC_000019.9:g.49468765A>G , CM000681.1:g.49468765A>G | GRCh37 |
| NC_000019.8:g.54160577A>G | NCBI36 |
| NG_008152.1:g.5200A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331825.11:c.1A>G MANE Select | ENSP00000366525.2:p.Met1Val | |
| ENST00000331825.10:c.1A>G | ENSP00000366525.2:p.Met1Val | |
| ENST00000622577.2:c.1A>G | ENSP00000484043.1:p.Met1Val | |
| NM_000146.3:c.1A>G | NP_000137.2:p.Met1Val | |
| XM_024451447.1:c.511A>G | XP_024307215.1:p.Met171Val | |
| NM_000146.4:c.1A>G MANE Select | NP_000137.2:p.Met1Val |