Revel Score:
ENST00000368476 (MANE Select)
0.508
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571833T>A , CM000663.2:g.154571833T>A | GRCh38 |
| NC_000001.10:g.154544309T>A , CM000663.1:g.154544309T>A | GRCh37 |
| NC_000001.9:g.152810933T>A | NCBI36 |
| NG_008027.1:g.9053T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.1010T>A MANE Select | ENSP00000357461.3:p.Val337Asp | |
| ENST00000636034.1:c.1010T>A | ENSP00000489703.1:p.Val337Asp | |
| ENST00000637900.1:c.1016T>A | ENSP00000490474.1:p.Val339Asp | |
| ENST00000368476.3:c.1010T>A | ENSP00000357461.3:p.Val337Asp | |
| NM_000748.2:c.1010T>A | NP_000739.1:p.Val337Asp | |
| XM_017000180.2:c.500T>A | XP_016855669.1:p.Val167Asp | |
| XR_001736952.2:n.1262T>A | ||
| NM_000748.3:c.1010T>A MANE Select | NP_000739.1:p.Val337Asp |