Revel Score:
ENST00000278616
0.123
ENST00000452508
0.123
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001747 (NFE)
Exomes Max Group AF
0.0000177 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108293367T>C , CM000673.2:g.108293367T>C | GRCh38 |
| NC_000011.9:g.108164094T>C , CM000673.1:g.108164094T>C | GRCh37 |
| NC_000011.8:g.107669304T>C | NCBI36 |
| NG_009830.1:g.75536T>C , LRG_135:g.75536T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.4666T>C | ENSP00000388058.2:p.Tyr1556His | |
| ENST00000713593.1:c.*4137T>C | ENSP00000518889.1:n.*4137T>C | |
| ENST00000278616.9:c.4666T>C | ENSP00000278616.4:p.Tyr1556His | |
| ENST00000683174.1:n.4816T>C | ||
| ENST00000683524.1:n.23T>C | ||
| ENST00000527805.6:c.4611+574T>C | ENSP00000435747.2:n.4611+574T>C | |
| ENST00000675595.1:c.4501T>C | ENSP00000502563.1:p.Tyr1501His | |
| ENST00000675843.1:c.4666T>C MANE Select | ENSP00000501606.1:p.Tyr1556His | |
| ENST00000278616.8:c.4666T>C | ENSP00000278616.4:p.Tyr1556His | |
| ENST00000452508.6:c.4666T>C | ENSP00000388058.2:p.Tyr1556His | |
| ENST00000524792.5:n.881T>C | ||
| ENST00000531525.2:c.444-1560T>C | ENSP00000434327.2:n.444-1560T>C | |
| NM_000051.3:c.4666T>C , LRG_135t1:c.4666T>C | NP_000042.3:p.Tyr1556His | |
| XM_005271561.3:c.4666T>C | XP_005271618.2:p.Tyr1556His | |
| XM_005271562.3:c.4666T>C | XP_005271619.2:p.Tyr1556His | |
| XM_006718843.2:c.4666T>C | XP_006718906.1:p.Tyr1556His | |
| XM_006718845.1:c.622T>C | XP_006718908.1:p.Tyr208His | |
| XM_011542840.1:c.4666T>C | XP_011541142.1:p.Tyr1556His | |
| XM_011542841.1:c.4666T>C | XP_011541143.1:p.Tyr1556His | |
| XM_011542842.1:c.4501T>C | XP_011541144.1:p.Tyr1501His | |
| XM_011542843.1:c.4666T>C | XP_011541145.1:p.Tyr1556His | |
| XM_011542844.1:c.3622T>C | XP_011541146.1:p.Tyr1208His | |
| XM_011542845.1:c.3358T>C | XP_011541147.1:p.Tyr1120His | |
| XM_011542846.1:c.4666T>C | XP_011541148.1:p.Tyr1556His | |
| NM_001351834.1:c.4666T>C | NP_001338763.1:p.Tyr1556His | |
| XM_005271562.5:c.4666T>C | XP_005271619.2:p.Tyr1556His | |
| XM_006718843.4:c.4666T>C | XP_006718906.1:p.Tyr1556His | |
| XM_006718845.2:c.622T>C | XP_006718908.1:p.Tyr208His | |
| XM_011542840.3:c.4666T>C | XP_011541142.1:p.Tyr1556His | |
| XM_011542842.3:c.4501T>C | XP_011541144.1:p.Tyr1501His | |
| XM_011542843.2:c.4666T>C | XP_011541145.1:p.Tyr1556His | |
| XM_011542844.3:c.3622T>C | XP_011541146.1:p.Tyr1208His | |
| XM_011542845.2:c.3358T>C | XP_011541147.1:p.Tyr1120His | |
| XM_017017789.2:c.4666T>C | XP_016873278.1:p.Tyr1556His | |
| XM_017017790.2:c.4666T>C | XP_016873279.1:p.Tyr1556His | |
| XM_017017791.1:c.4666T>C | XP_016873280.1:p.Tyr1556His | |
| XM_017017792.2:c.4666T>C | XP_016873281.1:p.Tyr1556His | |
| XR_002957150.1:n.5399T>C | ||
| NM_001351834.2:c.4666T>C | NP_001338763.1:p.Tyr1556His | |
| NM_000051.4:c.4666T>C MANE Select | NP_000042.3:p.Tyr1556His |