ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000688 (NFE)
Exomes Max Group AF
0.00000731 (NFE)
Revel Score:
ENST00000350721 (MANE Select)
0.398
ENST00000383101
0.398
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142497116C>A , CM000665.2:g.142497116C>A | GRCh38 |
| NC_000003.11:g.142215958C>A , CM000665.1:g.142215958C>A | GRCh37 |
| NC_000003.10:g.143698648C>A | NCBI36 |
| NG_008951.1:g.86711G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350721.9:c.5635G>T MANE Select | ENSP00000343741.4:p.Asp1879Tyr | |
| ENST00000513291.2:n.819G>T | ||
| ENST00000653868.1:n.5664G>T | ||
| ENST00000656590.1:c.4425G>T | ||
| ENST00000661310.1:c.5443G>T | ENSP00000499589.1:p.Asp1815Tyr | |
| ENST00000666943.1:n.1099G>T | ||
| ENST00000350721.8:c.5635G>T | ENSP00000343741.4:p.Asp1879Tyr | |
| ENST00000507620.2:n.713+18G>T | ||
| ENST00000514393.5:n.318G>T | ||
| NM_001184.3:c.5635G>T | NP_001175.2:p.Asp1879Tyr | |
| XM_011512924.1:c.5641G>T | XP_011511226.1:p.Asp1881Tyr | |
| XM_011512925.1:c.5449G>T | XP_011511227.1:p.Asp1817Tyr | |
| XM_011512926.1:c.5641G>T | XP_011511228.1:p.Asp1881Tyr | |
| XM_011512927.1:c.5641G>T | XP_011511229.1:p.Asp1881Tyr | |
| XR_924147.1:n.5730G>T | ||
| XR_924148.1:n.5730G>T | ||
| XR_924149.1:n.5712+18G>T | ||
| NM_001354579.1:c.5443G>T | NP_001341508.1:p.Asp1815Tyr | |
| XR_001740179.2:n.5724G>T | ||
| XR_001740180.2:n.5730G>T | ||
| XR_001740181.2:n.5712+18G>T | ||
| XR_001740182.1:n.5712+18G>T | ||
| XR_002959543.1:n.5730G>T | ||
| XR_924148.2:n.5730G>T | ||
| NM_001184.4:c.5635G>T MANE Select | NP_001175.2:p.Asp1879Tyr | |
| NM_001354579.2:c.5443G>T | NP_001341508.1:p.Asp1815Tyr |