COSMIC:
COSM4143052 (not active)
Revel Score:
ENST00000367674 (MANE Select)
0.050
ENST00000263525
0.050
ENST00000367673
0.050
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.79637303 (EAS)
Genomes Max Group AF
0.79597887 (EAS)
Exomes Max Group AF
0.79422502 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.175379587C>T , CM000663.2:g.175379587C>T | GRCh38 |
| NC_000001.10:g.175348723C>T , CM000663.1:g.175348723C>T | GRCh37 |
| NC_000001.9:g.173615346C>T | NCBI36 |
| NG_050931.1:g.369116G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367674.7:c.1928G>A MANE Select | ENSP00000356646.1:p.Arg643Lys | |
| ENST00000263525.6:c.1928G>A | ENSP00000263525.2:p.Arg643Lys | |
| ENST00000367674.6:c.1928G>A | ENSP00000356646.1:p.Arg643Lys | |
| NM_003285.2:c.1928G>A | NP_003276.3:p.Arg643Lys | |
| XM_011509947.1:c.1928G>A | XP_011508249.1:p.Arg643Lys | |
| XM_011509948.1:c.1664G>A | XP_011508250.1:p.Arg555Lys | |
| XM_011509949.1:c.1451G>A | XP_011508251.1:p.Arg484Lys | |
| NM_001328635.1:c.929G>A | NP_001315564.1:p.Arg310Lys | |
| XM_011509949.2:c.1451G>A | XP_011508251.1:p.Arg484Lys | |
| XM_017002218.1:c.1928G>A | XP_016857707.1:p.Arg643Lys | |
| XM_017002219.1:c.1928G>A | XP_016857708.1:p.Arg643Lys | |
| NM_003285.3:c.1928G>A MANE Select | NP_003276.3:p.Arg643Lys | |
| NM_001328635.2:c.929G>A | NP_001315564.1:p.Arg310Lys |