COSMIC:
COSM4142285 (not active)
Revel Score:
ENST00000339381 (MANE Select)
0.134
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.98210958 (AFR)
Genomes Max Group AF
0.9801633 (AFR)
Exomes Max Group AF
0.97901365 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1334174T>C , CM000663.2:g.1334174T>C | GRCh38 |
| NC_000001.10:g.1269554T>C , CM000663.1:g.1269554T>C | GRCh37 |
| NC_000001.9:g.1259417T>C | NCBI36 |
| NG_008048.1:g.19939A>G | |
| NG_008048.2:g.19939A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339381.6:c.2269T>C MANE Select | ENSP00000344411.5:p.Cys757Arg | |
| ENST00000339381.5:c.2269T>C | ENSP00000344411.5:p.Cys757Arg | |
| XM_011542239.1:c.2266T>C | XP_011540541.1:p.Cys756Arg | |
| XM_017002435.1:c.2395T>C | XP_016857924.1:p.Cys799Arg | |
| XM_017002436.1:c.2392T>C | XP_016857925.1:p.Cys798Arg | |
| NM_152228.3:c.2269T>C MANE Select | NP_689414.2:p.Cys757Arg |