Revel Score:
ENST00000319065
0.923
ENST00000231188
0.923
ENST00000517717 (MANE Select)
0.923
gnomAD v2:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178986132G>T , CM000667.2:g.178986132G>T | GRCh38 |
| NC_000005.9:g.178413133G>T , CM000667.1:g.178413133G>T | GRCh37 |
| NC_000005.8:g.178345739G>T | NCBI36 |
| NG_008105.1:g.13992C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517717.3:c.2122C>A MANE Select | ENSP00000430767.1:p.Gln708Lys | |
| ENST00000650031.1:c.2122C>A | ENSP00000497110.1:p.Gln708Lys | |
| ENST00000231188.9:c.2122C>A | ENSP00000231188.5:p.Gln708Lys | |
| ENST00000517717.1:c.2122C>A | ENSP00000430767.1:p.Gln708Lys | |
| ENST00000519003.1:n.121C>A | ||
| NM_000843.3:c.2122C>A | NP_000834.2:p.Gln708Lys | |
| XR_941310.1:n.1470-3615G>T | ||
| NM_000843.4:c.2122C>A MANE Select | NP_000834.2:p.Gln708Lys |