Revel Score:
ENST00000375715
0.102
ENST00000375708 (MANE Select)
0.102
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00257444 (EAS)
Genomes Max Group AF
0.0001669 (AFR)
Exomes Max Group AF
0.00283948 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91726620G>A , CM000671.2:g.91726620G>A | GRCh38 |
| NC_000009.11:g.94488902G>A , CM000671.1:g.94488902G>A | GRCh37 |
| NC_000009.10:g.93528723G>A | NCBI36 |
| NG_008089.1:g.228543C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.1307C>T MANE Select | ENSP00000364860.3:p.Ala436Val | |
| ENST00000375708.3:c.1307C>T | ENSP00000364860.3:p.Ala436Val | |
| ENST00000375715.5:c.887C>T | ENSP00000364867.1:p.Ala296Val | |
| ENST00000550066.5:n.1775C>T | ||
| NM_004560.3:c.1307C>T | NP_004551.2:p.Ala436Val | |
| XM_005252008.3:c.887C>T | XP_005252065.1:p.Ala296Val | |
| XM_005252009.3:c.104C>T | XP_005252066.1:p.Ala35Val | |
| XM_006717121.2:c.887C>T | XP_006717184.1:p.Ala296Val | |
| XM_011518721.1:c.887C>T | XP_011517023.1:p.Ala296Val | |
| NM_001318204.1:c.1273C>T | NP_001305133.1:p.Arg425Cys | |
| XM_005252008.4:c.887C>T | XP_005252065.1:p.Ala296Val | |
| XM_006717121.3:c.887C>T | XP_006717184.1:p.Ala296Val | |
| XM_017014762.1:c.1298C>T | XP_016870251.1:p.Ala433Val | |
| XM_017014763.1:c.887C>T | XP_016870252.1:p.Ala296Val | |
| XR_001746315.1:n.1516C>T | ||
| NM_004560.4:c.1307C>T MANE Select | NP_004551.2:p.Ala436Val | |
| NM_001318204.2:c.1273C>T | NP_001305133.1:p.Arg425Cys |