Revel Score:
ENST00000370192 (MANE Select)
0.881
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97373598C>T , CM000663.2:g.97373598C>T | GRCh38 |
| NC_000001.10:g.97839154C>T , CM000663.1:g.97839154C>T | GRCh37 |
| NC_000001.9:g.97611742C>T | NCBI36 |
| NG_008807.2:g.552462G>A , LRG_722:g.552462G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.2021G>A MANE Select | ENSP00000359211.3:p.Gly674Asp | |
| ENST00000370192.7:c.2021G>A | ENSP00000359211.3:p.Gly674Asp | |
| NM_000110.3:c.2021G>A , LRG_722t1:c.2021G>A | NP_000101.2:p.Gly674Asp | |
| XM_005270562.3:c.1805G>A | XP_005270619.2:p.Gly602Asp | |
| XM_006710397.2:c.2021G>A | XP_006710460.1:p.Gly674Asp | |
| XR_947619.1:n.1125-1930C>T | ||
| XR_947620.1:n.1124+6397C>T | ||
| XR_947621.1:n.1125-1930C>T | ||
| XM_006710397.3:c.2021G>A | XP_006710460.1:p.Gly674Asp | |
| XM_017000507.1:c.1910G>A | XP_016855996.1:p.Gly637Asp | |
| XM_017000508.2:c.1526G>A | XP_016855997.1:p.Gly509Asp | |
| XM_017000509.2:c.1526G>A | XP_016855998.1:p.Gly509Asp | |
| XM_017000510.1:c.1526G>A | XP_016855999.1:p.Gly509Asp | |
| NM_000110.4:c.2021G>A MANE Select | NP_000101.2:p.Gly674Asp |