Revel Score:
ENST00000375071 (MANE Select)
0.817
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20604981G>C , CM000663.2:g.20604981G>C | GRCh38 |
| NC_000001.10:g.20931474G>C , CM000663.1:g.20931474G>C | GRCh37 |
| NC_000001.9:g.20804061G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375071.4:c.208G>C MANE Select | ENSP00000364212.3:p.Ala70Pro | |
| ENST00000375071.3:c.208G>C | ENSP00000364212.3:p.Ala70Pro | |
| ENST00000461985.1:n.252G>C | ||
| NM_001785.2:c.208G>C | NP_001776.1:p.Ala70Pro | |
| NM_001785.3:c.208G>C MANE Select | NP_001776.1:p.Ala70Pro |