Revel Score:
ENST00000297784 (MANE Select)
0.179
ENST00000340019
0.179
ENST00000396235
0.179
ENST00000537917
0.179
ENST00000542143
0.179
ENST00000396237
0.179
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72821038A>T , CM000671.2:g.72821038A>T | GRCh38 |
| NC_000009.11:g.75435954A>T , CM000671.1:g.75435954A>T | GRCh37 |
| NC_000009.10:g.74625774A>T | NCBI36 |
| NG_008213.1:g.304238A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.1960A>T MANE Select | ENSP00000297784.6:p.Met654Leu | |
| ENST00000644967.1:c.*400A>T | ENSP00000496159.1:n.*400A>T | |
| ENST00000645053.1:c.1258-5831A>T | ENSP00000493838.1:n.1258-5831A>T | |
| ENST00000645208.2:c.1960A>T | ENSP00000494684.1:p.Met654Leu | |
| ENST00000645773.1:c.1834A>T | ENSP00000493698.1:p.Met612Leu | |
| ENST00000645787.1:n.2103A>T | ||
| ENST00000646619.1:c.1522A>T | ENSP00000493726.1:p.Met508Leu | |
| ENST00000651183.1:c.1522A>T | ENSP00000498723.1:p.Met508Leu | |
| ENST00000297784.9:c.1960A>T | ENSP00000297784.5:p.Met654Leu | |
| ENST00000340019.4:c.1960A>T | ENSP00000341433.3:p.Met654Leu | |
| ENST00000469455.1:n.441A>T | ||
| ENST00000486417.5:n.858A>T | ||
| NM_138691.2:c.1960A>T | NP_619636.2:p.Met654Leu | |
| XM_011518213.1:c.2548A>T | XP_011516515.1:p.Met850Leu | |
| XM_017014256.1:c.1963A>T | XP_016869745.1:p.Met655Leu | |
| NM_138691.3:c.1960A>T MANE Select | NP_619636.2:p.Met654Leu |