ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
Revel Score:
ENST00000221996 (MANE Select)
0.954
ENST00000539067
0.954
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47836263C>T , CM000681.2:g.47836263C>T | GRCh38 |
| NC_000019.9:g.48339520C>T , CM000681.1:g.48339520C>T | GRCh37 |
| NC_000019.8:g.53031332C>T | NCBI36 |
| NG_008605.1:g.19422C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221996.12:c.121C>T MANE Select | ENSP00000221996.5:p.Arg41Trp | |
| ENST00000221996.11:c.121C>T | ENSP00000221996.5:p.Arg41Trp | |
| ENST00000539067.5:c.121C>T | ENSP00000445565.1:p.Arg41Trp | |
| ENST00000556527.1:n.98C>T | ||
| ENST00000566686.5:c.121C>T | ENSP00000457808.2:p.Arg41Trp | |
| ENST00000613299.1:c.100+1720C>T | ENSP00000478106.1:n.100+1720C>T | |
| NM_000554.4:c.121C>T | NP_000545.1:p.Arg41Trp | |
| NM_000554.5:c.121C>T | NP_000545.1:p.Arg41Trp | |
| NM_000554.6:c.121C>T MANE Select | NP_000545.1:p.Arg41Trp |