dbSNP:
gnomAD v3:
gnomAD v4:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149980348T>G , CM000667.2:g.149980348T>G | GRCh38 |
| NC_000005.9:g.149359911T>G , CM000667.1:g.149359911T>G | GRCh37 |
| NC_000005.8:g.149340104T>G | NCBI36 |
| NG_007147.2:g.21466T>G , LRG_684:g.21466T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.755T>G MANE Select | ENSP00000286298.4:p.Leu252Trp | |
| ENST00000286298.4:c.755T>G | ENSP00000286298.4:p.Leu252Trp | |
| ENST00000503336.1:c.372+1997T>G | ENSP00000426053.1:n.372+1997T>G | |
| NM_000112.3:c.755T>G , LRG_684t1:c.755T>G | NP_000103.2:p.Leu252Trp | |
| XM_017009191.2:c.755T>G | XP_016864680.1:p.Leu252Trp | |
| NM_000112.4:c.755T>G MANE Select | NP_000103.2:p.Leu252Trp |