Revel Score:
ENST00000366963 (MANE Select)
0.277
ENST00000324965
0.277
ENST00000457470
0.277
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07253243 (NFE)
Genomes Max Group AF
0.07369681 (NFE)
Exomes Max Group AF
0.07236913 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160122116C>T , CM000668.2:g.160122116C>T | GRCh38 |
| NC_000006.11:g.160543148C>T , CM000668.1:g.160543148C>T | GRCh37 |
| NC_000006.10:g.160463138C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366963.9:c.181C>T MANE Select | ENSP00000355930.4:p.Arg61Cys | |
| ENST00000324965.8:c.181C>T | ENSP00000318103.4:p.Arg61Cys | |
| ENST00000366963.8:c.181C>T | ENSP00000355930.4:p.Arg61Cys | |
| ENST00000457470.6:c.181C>T | ENSP00000409557.2:p.Arg61Cys | |
| ENST00000460902.2:c.181C>T | ENSP00000439274.1:p.Arg61Cys | |
| ENST00000539263.5:c.181C>T | ENSP00000443245.1:p.Arg61Cys | |
| NM_003057.2:c.181C>T | NP_003048.1:p.Arg61Cys | |
| NM_153187.1:c.181C>T | NP_694857.1:p.Arg61Cys | |
| XM_005267102.3:c.181C>T | XP_005267159.1:p.Arg61Cys | |
| XM_005267103.1:c.181C>T | XP_005267160.1:p.Arg61Cys | |
| XM_006715552.1:c.181C>T | XP_006715615.1:p.Arg61Cys | |
| XM_005267102.5:c.181C>T | XP_005267159.1:p.Arg61Cys | |
| XM_005267103.2:c.181C>T | XP_005267160.1:p.Arg61Cys | |
| XM_006715552.2:c.181C>T | XP_006715615.1:p.Arg61Cys | |
| NM_003057.3:c.181C>T MANE Select | NP_003048.1:p.Arg61Cys | |
| NM_153187.2:c.181C>T | NP_694857.1:p.Arg61Cys |