COSMIC:
COSM4160790
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002242 (AFR)
Genomes Max Group AF
0.00004891 (AFR)
Exomes Max Group AF
0.00000927 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31355357T>C , CM000668.2:g.31355357T>C | GRCh38 |
| NC_000006.11:g.31323134T>C , CM000668.1:g.31323134T>C | GRCh37 |
| NC_000006.10:g.31431113T>C | NCBI36 |
| NG_023187.1:g.6856A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.2902A>G | ||
| ENST00000481849.6:n.2328A>G | ||
| ENST00000497377.6:n.2328A>G | ||
| ENST00000640094.2:c.855A>G | ENSP00000491275.2:p.Val285= | |
| ENST00000696558.1:c.924A>G | ENSP00000512716.1:n.924A>G | |
| ENST00000696559.1:c.855A>G | ENSP00000512717.1:p.Val285= | |
| ENST00000696560.1:c.855A>G | ENSP00000512718.1:p.Val285= | |
| ENST00000696561.1:c.855A>G | ENSP00000512719.1:p.Val285= | |
| ENST00000696562.1:c.855A>G | ENSP00000512720.1:p.Val285= | |
| ENST00000412585.7:c.855A>G MANE Select | ENSP00000399168.2:p.Val285= | |
| ENST00000640094.1:c.48A>G | ENSP00000491275.1:p.Val16= | |
| ENST00000412585.6:c.855A>G | ENSP00000399168.2:p.Val285= | |
| ENST00000463574.1:n.446A>G | ||
| NM_005514.6:c.855A>G | NP_005505.2:p.Val285= | |
| XM_011514556.1:c.888A>G | XP_011512858.1:p.Val296= | |
| XM_011514557.1:c.855A>G | XP_011512859.1:p.Val285= | |
| XR_926175.1:n.1294A>G | ||
| NM_005514.7:c.855A>G | NP_005505.2:p.Val285= | |
| NM_005514.8:c.855A>G MANE Select | NP_005505.2:p.Val285= |