COSMIC:
COSM4581046 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00026034 (NFE)
Genomes Max Group AF
0.00017082 (NFE)
Exomes Max Group AF
0.00026095 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40397326T>G , CM000681.2:g.40397326T>G | GRCh38 |
| NC_000019.9:g.40903233T>G , CM000681.1:g.40903233T>G | GRCh37 |
| NC_000019.8:g.45595073T>G | NCBI36 |
| NG_007979.1:g.21039A>C , LRG_265:g.21039A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324001.8:c.1026A>C MANE Select | ENSP00000326018.6:p.Ala342= | |
| ENST00000673881.1:c.609A>C | ENSP00000501070.1:p.Ala203= | |
| ENST00000674005.2:c.1311A>C | ENSP00000501261.1:p.Ala437= | |
| ENST00000674773.1:c.609A>C | ENSP00000502579.1:p.Ala203= | |
| ENST00000675517.1:c.901A>C | ||
| ENST00000676076.1:c.887A>C | ||
| ENST00000676260.1:c.988A>C | ||
| ENST00000676316.1:c.913A>C | ||
| ENST00000291825.11:c.*1231A>C | ENSP00000291825.6:n.*1231A>C | |
| ENST00000324001.7:c.1026A>C | ENSP00000326018.6:p.Ala342= | |
| NM_020956.2:c.*1231A>C , LRG_265t1:c.*1231A>C | NP_066007.1:n.*1231A>C | |
| NM_181882.2:c.1026A>C , LRG_265t2:c.1026A>C | NP_870998.2:p.Ala342= | |
| XM_011527171.1:c.1026A>C | XP_011525473.1:p.Ala342= | |
| XM_011527171.2:c.1026A>C | XP_011525473.1:p.Ala342= | |
| XM_017027046.1:c.924A>C | XP_016882535.1:p.Ala308= | |
| XM_017027047.1:c.924A>C | XP_016882536.1:p.Ala308= | |
| NM_181882.3:c.1026A>C MANE Select | NP_870998.2:p.Ala342= |