Revel Score:
ENST00000395680
0.781
ENST00000395681
0.781
ENST00000252029 (MANE Select)
0.781
ENST00000395678
0.781
ENST00000425169
0.781
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50526474C>A , CM000684.2:g.50526474C>A | GRCh38 |
| NC_000022.10:g.50964903C>A , CM000684.1:g.50964903C>A | GRCh37 |
| NC_000022.9:g.49311769C>A | NCBI36 |
| NG_011860.1:g.8612G>T , LRG_727:g.8612G>T | |
| NG_016235.1:g.4966G>T | |
| NG_021419.1:g.23259C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252029.8:c.931G>T MANE Select | ENSP00000252029.3:p.Gly311Cys | |
| ENST00000395680.6:c.931G>T | ENSP00000379037.1:p.Gly311Cys | |
| ENST00000395681.6:c.931G>T | ENSP00000379038.1:p.Gly311Cys | |
| ENST00000650719.1:c.812G>T | ENSP00000498276.1:p.Gly271Val | |
| ENST00000651401.1:c.415G>T | ENSP00000499115.1:p.Gly139Cys | |
| ENST00000652401.1:c.432G>T | ||
| ENST00000252029.7:c.931G>T | ENSP00000252029.3:p.Gly311Cys | |
| ENST00000395678.7:c.931G>T | ENSP00000379036.3:p.Gly311Cys | |
| ENST00000395680.5:c.931G>T | ENSP00000379037.1:p.Gly311Cys | |
| ENST00000395681.5:c.931G>T | ENSP00000379038.1:p.Gly311Cys | |
| ENST00000425169.1:c.832G>T | ENSP00000395875.1:p.Gly278Cys | |
| ENST00000476284.1:n.937G>T | ||
| ENST00000487577.5:n.1218G>T | ||
| NM_001113755.2:c.931G>T | NP_001107227.1:p.Gly311Cys | |
| NM_001113756.2:c.931G>T | NP_001107228.1:p.Gly311Cys | |
| NM_001257988.1:c.931G>T , LRG_727t1:c.931G>T | NP_001244917.1:p.Gly311Cys | |
| NM_001257989.1:c.931G>T , LRG_727t2:c.931G>T | NP_001244918.1:p.Gly311Cys | |
| NM_001953.4:c.931G>T | NP_001944.1:p.Gly311Cys | |
| NM_001113755.3:c.931G>T | NP_001107227.1:p.Gly311Cys | |
| NM_001113756.3:c.931G>T | NP_001107228.1:p.Gly311Cys | |
| NM_001953.5:c.931G>T MANE Select | NP_001944.1:p.Gly311Cys |