Revel Score:
ENST00000252826 (MANE Select)
0.543
ENST00000427978
0.543
ENST00000355712
0.543
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49188641G>T , CM000681.2:g.49188641G>T | GRCh38 |
| NC_000019.9:g.49691898G>T , CM000681.1:g.49691898G>T | GRCh37 |
| NC_000019.8:g.54383710G>T | NCBI36 |
| NG_027551.1:g.35883G>T | |
| NG_027551.2:g.35883G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252826.10:c.1744G>T MANE Select | ENSP00000252826.4:p.Gly582Cys | |
| ENST00000252826.9:c.1744G>T | ENSP00000252826.4:p.Gly582Cys | |
| ENST00000427978.6:c.1744G>T | ENSP00000407492.1:p.Gly582Cys | |
| ENST00000595071.5:n.533G>T | ||
| ENST00000595519.5:c.*1154G>T | ENSP00000469893.1:n.*1154G>T | |
| ENST00000596338.5:n.1666G>T | ||
| ENST00000598502.5:c.*857G>T | ENSP00000470229.1:n.*857G>T | |
| ENST00000598697.5:c.*699G>T | ENSP00000468989.1:n.*699G>T | |
| NM_001195227.1:c.1744G>T | NP_001182156.1:p.Gly582Cys | |
| NM_017636.3:c.1744G>T | NP_060106.2:p.Gly582Cys | |
| XM_005259017.1:c.457G>T | XP_005259074.1:p.Gly153Cys | |
| XM_005259018.2:c.136G>T | XP_005259075.1:p.Gly46Cys | |
| XM_011527046.1:c.1222G>T | XP_011525348.1:p.Gly408Cys | |
| NM_001321281.1:c.1399G>T | NP_001308210.1:p.Gly467Cys | |
| NM_001321282.1:c.136G>T | NP_001308211.1:p.Gly46Cys | |
| NM_001321283.1:c.1222G>T | NP_001308212.1:p.Gly408Cys | |
| NM_001321285.1:c.682G>T | NP_001308214.1:p.Gly228Cys | |
| XM_024451557.1:c.-406G>T | XP_024307325.1:n.-406G>T | |
| NM_017636.4:c.1744G>T MANE Select | NP_060106.2:p.Gly582Cys | |
| NM_001195227.2:c.1744G>T | NP_001182156.1:p.Gly582Cys | |
| NM_001321281.2:c.1399G>T | NP_001308210.1:p.Gly467Cys | |
| NM_001321282.2:c.136G>T | NP_001308211.1:p.Gly46Cys | |
| NM_001321283.2:c.1222G>T | NP_001308212.1:p.Gly408Cys | |
| NM_001321285.2:c.682G>T | NP_001308214.1:p.Gly228Cys |