COSMIC:
COSM4418612 (not active)
Revel Score:
ENST00000298139 (MANE Select)
0.070
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27498624 (SAS)
Genomes Max Group AF
0.275169 (SAS)
Exomes Max Group AF
0.2743562 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31167138T>C , CM000670.2:g.31167138T>C | GRCh38 |
| NC_000008.10:g.31024654T>C , CM000670.1:g.31024654T>C | GRCh37 |
| NC_000008.9:g.31144196T>C | NCBI36 |
| NG_008870.1:g.138877T>C , LRG_524:g.138877T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.4099T>C MANE Select | ENSP00000298139.5:p.Cys1367Arg | |
| ENST00000650667.1:c.*3713T>C | ENSP00000498593.1:n.*3713T>C | |
| ENST00000651946.1:n.323T>C | ||
| ENST00000298139.5:c.4099T>C | ENSP00000298139.5:p.Cys1367Arg | |
| ENST00000521620.5:n.2732T>C | ||
| NM_000553.4:c.4099T>C , LRG_524t1:c.4099T>C | NP_000544.2:p.Cys1367Arg | |
| XM_011544639.1:c.4018T>C | XP_011542941.1:p.Cys1340Arg | |
| XM_011544640.1:c.2500T>C | XP_011542942.1:p.Cys834Arg | |
| XR_949643.1:n.320A>G | ||
| XR_949644.1:n.320A>G | ||
| XR_949645.1:n.320A>G | ||
| XR_949646.1:n.320A>G | ||
| XR_949647.1:n.933A>G | ||
| XR_949648.1:n.835A>G | ||
| NM_000553.5:c.4099T>C | NP_000544.2:p.Cys1367Arg | |
| XM_011544639.3:c.4018T>C | XP_011542941.1:p.Cys1340Arg | |
| XM_024447265.1:c.3889T>C | XP_024303033.1:p.Cys1297Arg | |
| NM_000553.6:c.4099T>C MANE Select | NP_000544.2:p.Cys1367Arg |