Revel Score:
ENST00000399402
0.922
ENST00000307363 (MANE Select)
0.922
ENST00000445488
0.922
ENST00000307377
0.922
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Exomes Max Group AF
0.00000309 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33014263C>A , CM000665.2:g.33014263C>A | GRCh38 |
| NC_000003.11:g.33055755C>A , CM000665.1:g.33055755C>A | GRCh37 |
| NC_000003.10:g.33030759C>A | NCBI36 |
| NG_009005.1:g.87940G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.1527G>T MANE Select | ENSP00000306920.4:p.Trp509Cys | |
| ENST00000307363.9:c.1527G>T | ENSP00000306920.4:p.Trp509Cys | |
| ENST00000307377.12:c.1134G>T | ENSP00000305920.8:p.Trp378Cys | |
| ENST00000399402.7:c.1437G>T | ENSP00000382333.2:p.Trp479Cys | |
| ENST00000461475.5:n.626G>T | ||
| ENST00000497796.5:n.779G>T | ||
| NM_000404.2:c.1527G>T | NP_000395.2:p.Trp509Cys | |
| NM_000404.3:c.1527G>T | NP_000395.2:p.Trp509Cys | |
| NM_001079811.1:c.1437G>T | NP_001073279.1:p.Trp479Cys | |
| NM_001079811.2:c.1437G>T | NP_001073279.1:p.Trp479Cys | |
| NM_001135602.1:c.1134G>T | NP_001129074.1:p.Trp378Cys | |
| NM_001135602.2:c.1134G>T | NP_001129074.1:p.Trp378Cys | |
| NM_001317040.1:c.1671G>T | NP_001303969.1:p.Trp557Cys | |
| NM_000404.4:c.1527G>T MANE Select | NP_000395.3:p.Trp509Cys | |
| NM_001079811.3:c.1437G>T | NP_001073279.2:p.Trp479Cys | |
| NM_001135602.3:c.1134G>T | NP_001129074.2:p.Trp378Cys | |
| NM_001317040.2:c.1671G>T | NP_001303969.2:p.Trp557Cys | |
| NM_001393580.1:c.1527G>T | NP_001380509.1:p.Trp509Cys |