COSMIC:
COSM4001990 (not active)
Revel Score:
ENST00000284885 (MANE Select)
0.113
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.78475541 (NFE)
Genomes Max Group AF
0.77943995 (NFE)
Exomes Max Group AF
0.78478058 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.18297801G>A , CM000683.2:g.18297801G>A | GRCh38 |
| NC_000021.8:g.19670118G>A , CM000683.1:g.19670118G>A | GRCh37 |
| NC_000021.7:g.18591989G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284885.8:c.2194C>T MANE Select | ENSP00000284885.3:p.Pro732Ser | |
| ENST00000284885.7:c.2194C>T | ENSP00000284885.3:p.Pro732Ser | |
| XM_011529654.1:c.2329C>T | XP_011527956.1:p.Pro777Ser | |
| XM_011529655.1:c.2329C>T | XP_011527957.1:p.Pro777Ser | |
| XM_011529656.1:c.2329C>T | XP_011527958.1:p.Pro777Ser | |
| XM_011529657.1:c.2284C>T | XP_011527959.1:p.Pro762Ser | |
| XM_011529658.1:c.2248C>T | XP_011527960.1:p.Pro750Ser | |
| XM_011529659.1:c.2239C>T | XP_011527961.1:p.Pro747Ser | |
| XM_011529654.2:c.2329C>T | XP_011527956.1:p.Pro777Ser | |
| XM_011529656.2:c.2329C>T | XP_011527958.1:p.Pro777Ser | |
| XM_011529657.2:c.2284C>T | XP_011527959.1:p.Pro762Ser | |
| XM_011529658.2:c.2248C>T | XP_011527960.1:p.Pro750Ser | |
| NM_002772.3:c.2194C>T MANE Select | NP_002763.3:p.Pro732Ser |