Revel Score:
ENST00000340482
0.850
ENST00000225275 (MANE Select)
0.850
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273534C>A , CM000679.2:g.58273534C>A | GRCh38 |
| NC_000017.10:g.56350895C>A , CM000679.1:g.56350895C>A | GRCh37 |
| NC_000017.9:g.53705894C>A | NCBI36 |
| NG_009629.1:g.12402G>T , LRG_84:g.12402G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.834G>T | ||
| ENST00000699291.1:c.626G>T | ENSP00000514272.1:n.626G>T | |
| ENST00000699292.1:n.541G>T | ||
| ENST00000225275.4:c.1501G>T MANE Select | ENSP00000225275.3:p.Gly501Cys | |
| ENST00000225275.3:c.1501G>T | ENSP00000225275.3:p.Gly501Cys | |
| NM_000250.1:c.1501G>T , LRG_84t1:c.1501G>T | NP_000241.1:p.Gly501Cys | |
| XM_011524821.1:c.1687G>T | XP_011523123.1:p.Gly563Cys | |
| XM_011524822.1:c.1216G>T | XP_011523124.1:p.Gly406Cys | |
| XM_011524823.1:c.*50G>T | XP_011523125.1:n.*50G>T | |
| NM_000250.2:c.1501G>T MANE Select | NP_000241.1:p.Gly501Cys |