Revel Score:
ENST00000299314 (MANE Select)
0.956
ENST00000549940
0.956
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101790019C>A , CM000674.2:g.101790019C>A | GRCh38 |
| NC_000012.11:g.102183797C>A , CM000674.1:g.102183797C>A | GRCh37 |
| NC_000012.10:g.100707928C>A | NCBI36 |
| NG_021243.1:g.45849G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.242G>T MANE Select | ENSP00000299314.7:p.Trp81Leu | |
| ENST00000299314.11:c.242G>T | ENSP00000299314.7:p.Trp81Leu | |
| ENST00000549940.5:c.242G>T | ENSP00000449150.1:p.Trp81Leu | |
| ENST00000550352.1:n.36G>T | ||
| NM_024312.4:c.242G>T | NP_077288.2:p.Trp81Leu | |
| XM_006719593.2:c.242G>T | XP_006719656.1:p.Trp81Leu | |
| XM_011538731.1:c.161G>T | XP_011537033.1:p.Trp54Leu | |
| XM_006719593.3:c.242G>T | XP_006719656.1:p.Trp81Leu | |
| XM_011538731.2:c.161G>T | XP_011537033.1:p.Trp54Leu | |
| XM_017019961.1:c.26G>T | XP_016875450.1:p.Trp9Leu | |
| XM_017019962.2:c.-1109G>T | XP_016875451.1:n.-1109G>T | |
| NM_024312.5:c.242G>T MANE Select | NP_077288.2:p.Trp81Leu |