COSMIC:
COSM6352168 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11129307 (EAS)
Genomes Max Group AF
0.11127698 (EAS)
Exomes Max Group AF
0.110466 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19383150C>T , CM000679.2:g.19383150C>T | GRCh38 |
| NC_000017.10:g.19286463C>T , CM000679.1:g.19286463C>T | GRCh37 |
| NC_000017.9:g.19227056C>T | NCBI36 |
| NG_027952.1:g.9070G>A | |
| NG_031885.1:g.33G>A | |
| NG_031885.2:g.44G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395604.8:c.2370C>T MANE Select | ENSP00000378968.3:p.Ala790= | |
| ENST00000299612.11:c.1953C>T | ENSP00000299612.7:p.Ala651= | |
| ENST00000308406.9:c.2370C>T | ENSP00000311005.5:p.Ala790= | |
| ENST00000395602.8:c.2370C>T | ENSP00000378966.4:p.Ala790= | |
| ENST00000395604.7:c.2370C>T | ENSP00000378968.3:p.Ala790= | |
| ENST00000490660.2:n.2473C>T | ||
| ENST00000570306.5:n.4145C>T | ||
| ENST00000571657.5:n.510C>T | ||
| NM_002749.3:c.2370C>T | NP_002740.2:p.Ala790= | |
| NM_139032.2:c.1953C>T | NP_620601.1:p.Ala651= | |
| NM_139033.2:c.2370C>T | NP_620602.2:p.Ala790= | |
| NM_139034.2:c.2370C>T | NP_620603.2:p.Ala790= | |
| XM_005256719.2:c.1953C>T | XP_005256776.1:p.Ala651= | |
| XM_006721557.2:c.2388C>T | XP_006721620.1:p.Ala796= | |
| XM_006721558.2:c.2388C>T | XP_006721621.1:p.Ala796= | |
| XM_006721559.2:c.2388C>T | XP_006721622.1:p.Ala796= | |
| XM_011523957.1:c.1953C>T | XP_011522259.1:p.Ala651= | |
| XM_006721557.3:c.2388C>T | XP_006721620.1:p.Ala796= | |
| XM_006721558.3:c.2388C>T | XP_006721621.1:p.Ala796= | |
| XM_006721559.3:c.2388C>T | XP_006721622.1:p.Ala796= | |
| XM_011523957.3:c.1953C>T | XP_011522259.1:p.Ala651= | |
| NM_002749.4:c.2370C>T MANE Select | NP_002740.2:p.Ala790= | |
| NM_139032.3:c.1953C>T | NP_620601.1:p.Ala651= | |
| NM_139034.3:c.2370C>T | NP_620603.2:p.Ala790= | |
| NM_139033.3:c.2370C>T | NP_620602.2:p.Ala790= |