Revel Score:
ENST00000265631 (MANE Select)
0.380
ENST00000416240
0.380
ENST00000542654
0.380
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96189654G>C , CM000669.2:g.96189654G>C | GRCh38 |
| NC_000007.13:g.95818966G>C , CM000669.1:g.95818966G>C | GRCh37 |
| NC_000007.12:g.95656902G>C | NCBI36 |
| NG_012247.1:g.137494C>G | |
| NG_012247.2:g.137494C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265631.10:c.775C>G MANE Select | ENSP00000265631.6:p.Gln259Glu | |
| ENST00000265631.9:c.775C>G | ENSP00000265631.5:p.Gln259Glu | |
| ENST00000416240.6:c.775C>G | ENSP00000400101.2:p.Gln259Glu | |
| NM_001160210.1:c.775C>G | NP_001153682.1:p.Gln259Glu | |
| NM_014251.2:c.775C>G | NP_055066.1:p.Gln259Glu | |
| NR_027662.1:n.850C>G | ||
| XM_006715831.2:c.808C>G | XP_006715894.1:p.Gln270Glu | |
| XM_011515727.1:c.808C>G | XP_011514029.1:p.Gln270Glu | |
| XM_011515728.1:c.-4-276C>G | XP_011514030.1:n.-4-276C>G | |
| XM_006715831.4:c.808C>G | XP_006715894.1:p.Gln270Glu | |
| XM_011515727.3:c.808C>G | XP_011514029.1:p.Gln270Glu | |
| XM_017011663.1:c.766C>G | XP_016867152.1:p.Gln256Glu | |
| XM_017011664.2:c.-4-276C>G | XP_016867153.1:n.-4-276C>G | |
| XM_017011665.1:c.-4-276C>G | XP_016867154.1:n.-4-276C>G | |
| XR_001744525.2:n.946C>G | ||
| XR_002956405.1:n.1088C>G | ||
| NM_014251.3:c.775C>G MANE Select | NP_055066.1:p.Gln259Glu | |
| NR_027662.2:n.801C>G | ||
| NM_001160210.2:c.775C>G | NP_001153682.1:p.Gln259Glu |