COSMIC:
COSM4143062 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57869954 (EAS)
Genomes Max Group AF
0.57194676 (EAS)
Exomes Max Group AF
0.5777029 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17348042C>A , CM000663.2:g.17348042C>A | GRCh38 |
| NC_000001.10:g.17674537C>A , CM000663.1:g.17674537C>A | GRCh37 |
| NC_000001.9:g.17547124C>A | NCBI36 |
| NG_023261.2:g.44853C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375448.4:c.1149C>A MANE Select | ENSP00000364597.4:p.Arg383= | |
| ENST00000468945.1:n.208C>A | ||
| ENST00000487048.5:n.116C>A | ||
| NM_012387.2:c.1149C>A | NP_036519.2:p.Arg383= | |
| XM_011541150.1:c.963C>A | XP_011539452.1:p.Arg321= | |
| XM_011541151.1:c.1149C>A | XP_011539453.1:p.Arg383= | |
| XM_011541152.1:c.612C>A | XP_011539454.1:p.Arg204= | |
| XM_011541153.1:c.1149C>A | XP_011539455.1:p.Arg383= | |
| XM_011541154.1:c.1149C>A | XP_011539456.1:p.Arg383= | |
| XM_011541155.1:c.1149C>A | XP_011539457.1:p.Arg383= | |
| XM_011541156.1:c.1149C>A | XP_011539458.1:p.Arg383= | |
| XM_011541157.1:c.258C>A | XP_011539459.1:p.Arg86= | |
| XM_011541154.2:c.1149C>A | XP_011539456.1:p.Arg383= | |
| NM_012387.3:c.1149C>A MANE Select | NP_036519.2:p.Arg383= |