Revel Score:
ENST00000375708 (MANE Select)
0.238
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.93598752 (EAS)
Genomes Max Group AF
0.90423286 (EAS)
Exomes Max Group AF
0.93775382 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91724039C>T , CM000671.2:g.91724039C>T | GRCh38 |
| NC_000009.11:g.94486321C>T , CM000671.1:g.94486321C>T | GRCh37 |
| NC_000009.10:g.93526142C>T | NCBI36 |
| NG_008089.1:g.231124G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.2455G>A MANE Select | ENSP00000364860.3:p.Val819Ile | |
| ENST00000375708.3:c.2455G>A | ENSP00000364860.3:p.Val819Ile | |
| ENST00000375715.5:c.1920+115G>A | ENSP00000364867.1:n.1920+115G>A | |
| ENST00000550066.5:n.2923G>A | ||
| NM_004560.3:c.2455G>A | NP_004551.2:p.Val819Ile | |
| XM_005252008.3:c.2035G>A | XP_005252065.1:p.Val679Ile | |
| XM_005252009.3:c.1252G>A | XP_005252066.1:p.Val418Ile | |
| XM_006717121.2:c.2035G>A | XP_006717184.1:p.Val679Ile | |
| XM_011518721.1:c.2035G>A | XP_011517023.1:p.Val679Ile | |
| XM_005252008.4:c.2035G>A | XP_005252065.1:p.Val679Ile | |
| XM_006717121.3:c.2035G>A | XP_006717184.1:p.Val679Ile | |
| XM_017014762.1:c.2446G>A | XP_016870251.1:p.Val816Ile | |
| XM_017014763.1:c.2035G>A | XP_016870252.1:p.Val679Ile | |
| NM_004560.4:c.2455G>A MANE Select | NP_004551.2:p.Val819Ile |