COSMIC:
COSM4003460 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81196727 (AFR)
Genomes Max Group AF
0.80371287 (AFR)
Exomes Max Group AF
0.81775956 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.176951573G>T , CM000667.2:g.176951573G>T | GRCh38 |
| NC_000005.9:g.176378574G>T , CM000667.1:g.176378574G>T | GRCh37 |
| NC_000005.8:g.176311180G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000511320.6:c.1344C>A MANE Select | ENSP00000421926.1:p.Thr448= | |
| ENST00000377227.8:c.1344C>A | ENSP00000366434.4:p.Thr448= | |
| ENST00000503273.1:n.479C>A | ||
| ENST00000506128.5:c.846C>A | ENSP00000427480.1:p.Thr282= | |
| ENST00000510698.2:c.234C>A | ENSP00000423717.2:p.Thr78= | |
| ENST00000511320.5:c.1344C>A | ENSP00000421926.1:p.Thr448= | |
| ENST00000512031.5:c.*847C>A | ENSP00000425566.1:n.*847C>A | |
| NM_001199297.1:c.1344C>A | NP_001186226.1:p.Thr448= | |
| NM_001199298.1:c.1344C>A | NP_001186227.1:p.Thr448= | |
| NM_016290.4:c.1344C>A | NP_057374.3:p.Thr448= | |
| XM_005265930.2:c.1344C>A | XP_005265987.1:p.Thr448= | |
| XM_005265931.2:c.1047C>A | XP_005265988.1:p.Thr349= | |
| XM_005265932.2:c.501C>A | XP_005265989.1:p.Thr167= | |
| XM_005265933.2:c.501C>A | XP_005265990.1:p.Thr167= | |
| XM_005265934.2:c.435C>A | XP_005265991.1:p.Thr145= | |
| XM_005265935.2:c.435C>A | XP_005265992.1:p.Thr145= | |
| XM_005265936.2:c.234C>A | XP_005265993.1:p.Thr78= | |
| XM_006714871.2:c.1344C>A | XP_006714934.1:p.Thr448= | |
| XM_006714872.2:c.846C>A | XP_006714935.1:p.Thr282= | |
| XM_006714873.2:c.846C>A | XP_006714936.1:p.Thr282= | |
| XM_006714874.2:c.435C>A | XP_006714937.1:p.Thr145= | |
| XM_011534568.1:c.1344C>A | XP_011532870.1:p.Thr448= | |
| XM_011534569.1:c.1344C>A | XP_011532871.1:p.Thr448= | |
| XM_011534570.1:c.1344C>A | XP_011532872.1:p.Thr448= | |
| XR_941103.1:n.1476C>A | ||
| NM_001199297.2:c.1344C>A | NP_001186226.1:p.Thr448= | |
| NM_001317961.1:c.846C>A | NP_001304890.1:p.Thr282= | |
| NR_146149.1:n.1497C>A | ||
| NR_146150.1:n.1497C>A | ||
| XM_005265932.3:c.501C>A | XP_005265989.1:p.Thr167= | |
| XM_011534568.2:c.1344C>A | XP_011532870.1:p.Thr448= | |
| XM_017009574.2:c.1110C>A | XP_016865063.1:p.Thr370= | |
| XM_017009575.1:c.1047C>A | XP_016865064.1:p.Thr349= | |
| XM_017009576.1:c.501C>A | XP_016865065.1:p.Thr167= | |
| XM_017009577.1:c.501C>A | XP_016865066.1:p.Thr167= | |
| XM_017009578.1:c.234C>A | XP_016865067.1:p.Thr78= | |
| XM_017009579.1:c.234C>A | XP_016865068.1:p.Thr78= | |
| NM_001199298.2:c.1344C>A MANE Select | NP_001186227.1:p.Thr448= |