Revel Score:
ENST00000308418 (MANE Select)
0.249
ENST00000528220
0.249
ENST00000527610
0.249
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
7.2e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65720085T>C , CM000673.2:g.65720085T>C | GRCh38 |
| NC_000011.9:g.65487556T>C , CM000673.1:g.65487556T>C | GRCh37 |
| NC_000011.8:g.65244132T>C | NCBI36 |
| NG_008976.2:g.5854A>G , LRG_280:g.5854A>G | |
| NG_033057.1:g.13084T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308418.10:c.428A>G MANE Select | ENSP00000308193.5:p.Lys143Arg | |
| ENST00000528220.2:n.657A>G | ||
| ENST00000531596.6:c.428A>G | ENSP00000435717.2:p.Lys143Arg | |
| ENST00000534482.6:c.428A>G | ENSP00000432081.2:p.Lys143Arg | |
| ENST00000642430.1:n.321A>G | ||
| ENST00000643214.1:n.502A>G | ||
| ENST00000644142.1:c.428A>G | ENSP00000493695.1:p.Lys143Arg | |
| ENST00000644198.1:n.325A>G | ||
| ENST00000646597.1:n.365A>G | ||
| ENST00000308418.8:c.428A>G | ENSP00000308193.4:p.Lys143Arg | |
| ENST00000527610.1:c.428A>G | ENSP00000432897.1:p.Lys143Arg | |
| ENST00000528220.1:c.179A>G | ENSP00000431555.1:p.Lys60Arg | |
| ENST00000530192.1:n.545A>G | ||
| ENST00000531596.5:c.409A>G | ||
| ENST00000533698.5:c.307A>G | ||
| ENST00000534482.5:c.322A>G | ||
| NM_032193.3:c.428A>G , LRG_280t1:c.428A>G | NP_115569.2:p.Lys143Arg | |
| NM_032193.4:c.428A>G MANE Select | NP_115569.2:p.Lys143Arg |