Revel Score:
ENST00000297784 (MANE Select)
0.268
ENST00000340019
0.268
ENST00000396235
0.268
ENST00000537917
0.268
ENST00000542143
0.268
ENST00000396237
0.268
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72821038A>G , CM000671.2:g.72821038A>G | GRCh38 |
| NC_000009.11:g.75435954A>G , CM000671.1:g.75435954A>G | GRCh37 |
| NC_000009.10:g.74625774A>G | NCBI36 |
| NG_008213.1:g.304238A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.1960A>G MANE Select | ENSP00000297784.6:p.Met654Val | |
| ENST00000644967.1:c.*400A>G | ENSP00000496159.1:n.*400A>G | |
| ENST00000645053.1:c.1258-5831A>G | ENSP00000493838.1:n.1258-5831A>G | |
| ENST00000645208.2:c.1960A>G | ENSP00000494684.1:p.Met654Val | |
| ENST00000645773.1:c.1834A>G | ENSP00000493698.1:p.Met612Val | |
| ENST00000645787.1:n.2103A>G | ||
| ENST00000646619.1:c.1522A>G | ENSP00000493726.1:p.Met508Val | |
| ENST00000651183.1:c.1522A>G | ENSP00000498723.1:p.Met508Val | |
| ENST00000297784.9:c.1960A>G | ENSP00000297784.5:p.Met654Val | |
| ENST00000340019.4:c.1960A>G | ENSP00000341433.3:p.Met654Val | |
| ENST00000469455.1:n.441A>G | ||
| ENST00000486417.5:n.858A>G | ||
| NM_138691.2:c.1960A>G | NP_619636.2:p.Met654Val | |
| XM_011518213.1:c.2548A>G | XP_011516515.1:p.Met850Val | |
| XM_017014256.1:c.1963A>G | XP_016869745.1:p.Met655Val | |
| NM_138691.3:c.1960A>G MANE Select | NP_619636.2:p.Met654Val |