Revel Score:
ENST00000264499 (MANE Select)
0.496
ENST00000506636
0.496
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000444 (AFR)
Genomes Max Group AF
0.00000801 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121853086C>T , CM000666.2:g.121853086C>T | GRCh38 |
| NC_000004.11:g.122774241C>T , CM000666.1:g.122774241C>T | GRCh37 |
| NC_000004.10:g.122993691C>T | NCBI36 |
| NG_009111.1:g.22402G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264499.9:c.719G>A MANE Select | ENSP00000264499.4:p.Gly240Asp | |
| ENST00000264499.8:c.719G>A | ENSP00000264499.4:p.Gly240Asp | |
| ENST00000506636.1:c.719G>A | ENSP00000423626.1:p.Gly240Asp | |
| NM_018190.3:c.719G>A | NP_060660.2:p.Gly240Asp | |
| NM_176824.2:c.719G>A | NP_789794.1:p.Gly240Asp | |
| XM_005263106.2:c.722G>A | XP_005263163.1:p.Gly241Asp | |
| XM_011532079.1:c.767G>A | XP_011530381.1:p.Gly256Asp | |
| XM_011532080.1:c.764G>A | XP_011530382.1:p.Gly255Asp | |
| XM_011532081.1:c.767G>A | XP_011530383.1:p.Gly256Asp | |
| XM_005263106.4:c.722G>A | XP_005263163.1:p.Gly241Asp | |
| XM_011532079.3:c.767G>A | XP_011530381.1:p.Gly256Asp | |
| XM_011532080.3:c.764G>A | XP_011530382.1:p.Gly255Asp | |
| XM_011532081.3:c.767G>A | XP_011530383.1:p.Gly256Asp | |
| XM_017008357.2:c.719G>A | XP_016863846.1:p.Gly240Asp | |
| XM_017008358.2:c.722G>A | XP_016863847.1:p.Gly241Asp | |
| NM_176824.3:c.719G>A MANE Select | NP_789794.1:p.Gly240Asp | |
| NM_018190.4:c.719G>A | NP_060660.2:p.Gly240Asp |