Revel Score:
ENST00000366714 (MANE Select)
0.905
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228158572T>C , CM000663.2:g.228158572T>C | GRCh38 |
| NC_000001.10:g.228346273T>C , CM000663.1:g.228346273T>C | GRCh37 |
| NC_000001.9:g.226412896T>C | NCBI36 |
| NG_011838.1:g.13721T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366714.3:c.814T>C MANE Select | ENSP00000355675.2:p.Tyr272His | |
| ENST00000366714.2:c.814T>C | ENSP00000355675.2:p.Tyr272His | |
| NM_020435.3:c.814T>C | NP_065168.2:p.Tyr272His | |
| NM_020435.4:c.814T>C MANE Select | NP_065168.2:p.Tyr272His |