ClinVar Variation:
COSMIC:
COSM5979133
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000543 (NFE)
Exomes Max Group AF
0.00000577 (NFE)
Revel Score:
ENST00000379802 (MANE Select)
0.468
ENST00000418664
0.468
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7585738C>T , CM000668.2:g.7585738C>T | GRCh38 |
| NC_000006.11:g.7585971C>T , CM000668.1:g.7585971C>T | GRCh37 |
| NC_000006.10:g.7530970C>T | NCBI36 |
| NG_008803.1:g.49102C>T , LRG_423:g.49102C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.7147C>T | ENSP00000518230.1:p.Arg2383Cys | |
| ENST00000379802.8:c.8476C>T MANE Select | ENSP00000369129.3:p.Arg2826Cys | |
| ENST00000379802.7:c.8476C>T | ENSP00000369129.3:p.Arg2826Cys | |
| ENST00000418664.2:c.6679C>T | ENSP00000396591.2:p.Arg2227Cys | |
| NM_001008844.1:c.6679C>T | NP_001008844.1:p.Arg2227Cys | |
| NM_004415.2:c.8476C>T , LRG_423t1:c.8476C>T | NP_004406.2:p.Arg2826Cys | |
| XM_011514323.1:c.7147C>T | XP_011512625.1:p.Arg2383Cys | |
| NM_001008844.2:c.6679C>T | NP_001008844.1:p.Arg2227Cys | |
| NM_001319034.1:c.7147C>T | NP_001305963.1:p.Arg2383Cys | |
| NM_004415.3:c.8476C>T | NP_004406.2:p.Arg2826Cys | |
| NM_004415.4:c.8476C>T MANE Select | NP_004406.2:p.Arg2826Cys | |
| NM_001008844.3:c.6679C>T | NP_001008844.1:p.Arg2227Cys | |
| NM_001319034.2:c.7147C>T | NP_001305963.1:p.Arg2383Cys |