COSMIC:
COSM3762374 (not active)
Revel Score:
ENST00000445470
0.035
ENST00000222482 (MANE Select)
0.035
ENST00000538687
0.035
ENST00000493259
0.035
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38279028 (NFE)
Genomes Max Group AF
0.38497855 (NFE)
Exomes Max Group AF
0.38244573 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130310900G>T , CM000669.2:g.130310900G>T | GRCh38 |
| NC_000007.13:g.129950740G>T , CM000669.1:g.129950740G>T | GRCh37 |
| NC_000007.12:g.129737976G>T | NCBI36 |
| NG_011788.1:g.22767G>T | |
| NG_011788.2:g.22767G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222482.10:c.907G>T MANE Select | ENSP00000222482.4:p.Gly303Cys | |
| ENST00000222482.8:c.907G>T | ENSP00000222482.4:p.Gly303Cys | |
| ENST00000445470.6:c.808G>T | ENSP00000412947.2:p.Gly270Cys | |
| ENST00000488025.1:n.380G>T | ||
| ENST00000493259.5:c.595G>T | ENSP00000419660.1:p.Gly199Cys | |
| NM_001163446.1:c.808G>T | NP_001156918.1:p.Gly270Cys | |
| NM_016352.3:c.907G>T | NP_057436.2:p.Gly303Cys | |
| NM_001163446.2:c.808G>T | NP_001156918.1:p.Gly270Cys | |
| NM_016352.4:c.907G>T MANE Select | NP_057436.2:p.Gly303Cys |