Revel Score:
ENST00000262017
0.946
ENST00000435993
0.946
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47284512T>G , CM000679.2:g.47284512T>G | GRCh38 |
| NC_000017.10:g.45361878T>G , CM000679.1:g.45361878T>G | GRCh37 |
| NC_000017.9:g.42716877T>G | NCBI36 |
| NG_008332.2:g.35671T>G , LRG_481:g.35671T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.431T>G | ENSP00000513002.1:p.Met144Arg | |
| ENST00000559488.7:c.431T>G MANE Select | ENSP00000452786.2:p.Met144Arg | |
| ENST00000559488.5:c.431T>G | ENSP00000452786.1:p.Met144Arg | |
| ENST00000560629.1:c.396T>G | ||
| ENST00000571680.1:c.431T>G | ENSP00000461626.1:p.Met144Arg | |
| NM_000212.2:c.431T>G , LRG_481t1:c.431T>G | NP_000203.2:p.Met144Arg | |
| NM_000212.3:c.431T>G MANE Select | NP_000203.2:p.Met144Arg |