Revel Score:
ENST00000344887 (MANE Select)
0.607
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55157589T>C , CM000681.2:g.55157589T>C | GRCh38 |
| NC_000019.9:g.55668957T>C , CM000681.1:g.55668957T>C | GRCh37 |
| NC_000019.8:g.60360769T>C | NCBI36 |
| NG_007866.2:g.5144A>G , LRG_432:g.5144A>G | |
| NG_032759.1:g.14134A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.1A>G MANE Select | ENSP00000341838.5:p.Met1Val | |
| ENST00000665070.1:c.1A>G | ENSP00000499482.1:p.Met1Val | |
| ENST00000344887.9:c.1A>G | ENSP00000341838.5:p.Met1Val | |
| ENST00000586446.1:n.144A>G | ||
| ENST00000587176.5:n.185A>G | ||
| ENST00000587871.1:c.621A>G | ||
| ENST00000590463.1:n.128A>G | ||
| NM_000363.4:c.1A>G , LRG_432t1:c.1A>G | NP_000354.4:p.Met1Val | |
| NM_000363.5:c.1A>G MANE Select | NP_000354.4:p.Met1Val |