COSMIC:
COSM3757923 (not active)
COSM3757924 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34075612 (NFE)
Genomes Max Group AF
0.33406 (NFE)
Exomes Max Group AF
0.34096975 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.211387139T>C , CM000664.2:g.211387139T>C | GRCh38 |
| NC_000002.11:g.212251864T>C , CM000664.1:g.212251864T>C | GRCh37 |
| NC_000002.10:g.211960109T>C | NCBI36 |
| NG_011805.1:g.1156489A>G | |
| NG_011805.2:g.1156490A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260943.11:c.3117A>G | ENSP00000260943.7:p.Val1039= | |
| ENST00000342788.9:c.3195A>G MANE Select | ENSP00000342235.4:p.Val1065= | |
| ENST00000402597.6:c.3069A>G | ENSP00000385565.3:p.Val1023= | |
| ENST00000342788.8:c.3195A>G | ENSP00000342235.4:p.Val1065= | |
| ENST00000402597.5:c.3018A>G | ENSP00000385565.2:p.Val1006= | |
| ENST00000436443.5:c.3147A>G | ENSP00000403204.1:p.Val1049= | |
| NM_001042599.1:c.3147A>G | NP_001036064.1:p.Val1049= | |
| NM_005235.2:c.3195A>G | NP_005226.1:p.Val1065= | |
| XM_005246375.1:c.3192A>G | XP_005246432.1:p.Val1064= | |
| XM_005246376.1:c.3165A>G | XP_005246433.1:p.Val1055= | |
| XM_005246377.1:c.3117A>G | XP_005246434.1:p.Val1039= | |
| XM_006712364.1:c.3240A>G | XP_006712427.1:p.Val1080= | |
| XM_005246376.3:c.3165A>G | XP_005246433.1:p.Val1055= | |
| XM_005246377.3:c.3117A>G | XP_005246434.1:p.Val1039= | |
| XM_006712364.3:c.3240A>G | XP_006712427.1:p.Val1080= | |
| XM_017003577.2:c.3318A>G | XP_016859066.1:p.Val1106= | |
| XM_017003578.2:c.3273A>G | XP_016859067.1:p.Val1091= | |
| XM_017003579.2:c.3270A>G | XP_016859068.1:p.Val1090= | |
| XM_017003580.2:c.3243A>G | XP_016859069.1:p.Val1081= | |
| XM_017003581.2:c.3225A>G | XP_016859070.1:p.Val1075= | |
| XM_017003582.1:c.2619A>G | XP_016859071.1:p.Val873= | |
| NM_005235.3:c.3195A>G MANE Select | NP_005226.1:p.Val1065= |