ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Revel Score:
ENST00000329198 (MANE Select)
0.213
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173232693G>A , CM000667.2:g.173232693G>A | GRCh38 |
| NC_000005.9:g.172659696G>A , CM000667.1:g.172659696G>A | GRCh37 |
| NC_000005.8:g.172592302G>A | NCBI36 |
| NG_013340.1:g.7620C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329198.5:c.851C>T MANE Select | ENSP00000327758.4:p.Ala284Val | |
| ENST00000329198.4:c.851C>T | ENSP00000327758.4:p.Ala284Val | |
| NM_001166175.1:c.*804C>T | NP_001159647.1:n.*804C>T | |
| NM_001166176.1:c.*650C>T | NP_001159648.1:n.*650C>T | |
| NM_004387.3:c.851C>T | NP_004378.1:p.Ala284Val | |
| NM_004387.4:c.851C>T MANE Select | NP_004378.1:p.Ala284Val | |
| NM_001166175.2:c.*804C>T | NP_001159647.1:n.*804C>T | |
| NM_001166176.2:c.*650C>T | NP_001159648.1:n.*650C>T |