Revel Score:
ENST00000295770 (MANE Select)
0.779
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.31626002A>G , CM000665.2:g.31626002A>G | GRCh38 |
| NC_000003.11:g.31667494A>G , CM000665.1:g.31667494A>G | GRCh37 |
| NC_000003.10:g.31642498A>G | NCBI36 |
| NG_034164.1:g.98502A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295770.4:c.1948A>G MANE Select | ENSP00000295770.2:p.Arg650Gly | |
| ENST00000295770.3:c.1948A>G | ENSP00000295770.2:p.Arg650Gly | |
| NM_178862.2:c.1948A>G | NP_849193.1:p.Arg650Gly | |
| XM_017005857.2:c.1948A>G | XP_016861346.1:p.Arg650Gly | |
| XM_017005858.1:c.1510A>G | XP_016861347.1:p.Arg504Gly | |
| XM_017005859.2:c.1510A>G | XP_016861348.1:p.Arg504Gly | |
| NM_178862.3:c.1948A>G MANE Select | NP_849193.1:p.Arg650Gly |