Revel Score:
ENST00000539888
0.109
ENST00000540564
0.109
ENST00000535686
0.109
ENST00000367619 (MANE Select)
0.109
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179351443A>T , CM000663.2:g.179351443A>T | GRCh38 |
| NC_000001.10:g.179320578A>T , CM000663.1:g.179320578A>T | GRCh37 |
| NC_000001.9:g.177587201A>T | NCBI36 |
| NG_030638.1:g.62730A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367619.8:c.1577A>T MANE Select | ENSP00000356591.3:p.Gln526Leu | |
| ENST00000367619.7:c.1577A>T | ENSP00000356591.3:p.Gln526Leu | |
| ENST00000539888.5:c.1382A>T | ENSP00000441356.1:p.Gln461Leu | |
| ENST00000540564.5:c.1403A>T | ENSP00000445315.1:p.Gln468Leu | |
| NM_001252511.1:c.1403A>T | NP_001239440.1:p.Gln468Leu | |
| NM_001252512.1:c.1382A>T | NP_001239441.1:p.Gln461Leu | |
| NM_003101.5:c.1577A>T | NP_003092.4:p.Gln526Leu | |
| NR_045530.1:n.1727A>T | ||
| XM_011509911.1:c.1577A>T | XP_011508213.1:p.Gln526Leu | |
| NM_003101.6:c.1577A>T MANE Select | NP_003092.4:p.Gln526Leu | |
| NR_045530.2:n.1644A>T | ||
| NM_001252511.2:c.1403A>T | NP_001239440.1:p.Gln468Leu | |
| NM_001252512.2:c.1382A>T | NP_001239441.1:p.Gln461Leu |