Linked Data
ClinVar Variation Id:
30225
ClinVar RCV Id:
RCV000023149
dbSNP Id:
rs387906824
gnomAD v2:
16-8900234-A-T
gnomAD v4:
16-8806377-A-T
PubMed:
PMID:21937992
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8806377A>T , CM000678.2:g.8806377A>T | GRCh38 |
| NC_000016.9:g.8900234A>T , CM000678.1:g.8900234A>T | GRCh37 |
| NC_000016.8:g.8807735A>T | NCBI36 |
| NG_009209.1:g.13565A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682008.1:c.317A>T | ENSP00000507849.1:p.Tyr106Phe | |
| ENST00000682393.1:c.178+4467A>T | ENSP00000506774.1:n.178+4467A>T | |
| ENST00000683094.1:c.*39A>T | ENSP00000508230.1:n.*39A>T | |
| ENST00000683274.1:c.317A>T | ENSP00000507262.1:p.Tyr106Phe | |
| ENST00000683435.1:c.*313A>T | ENSP00000508092.1:n.*313A>T | |
| ENST00000268261.9:c.317A>T MANE Select | ENSP00000268261.4:p.Tyr106Phe | |
| ENST00000268261.8:c.317A>T | ENSP00000268261.4:p.Tyr106Phe | |
| ENST00000562318.5:c.*39A>T | ENSP00000454395.1:n.*39A>T | |
| ENST00000562448.1:n.281A>T | ||
| ENST00000564030.5:n.379A>T | ||
| ENST00000564069.1:c.288A>T | ||
| ENST00000565221.5:c.178+4467A>T | ENSP00000457932.1:n.178+4467A>T | |
| ENST00000565896.5:c.*145+3988A>T | ENSP00000456024.1:n.*145+3988A>T | |
| ENST00000566540.5:c.*39A>T | ENSP00000454284.1:n.*39A>T | |
| ENST00000566604.5:c.317A>T | ENSP00000456774.1:p.Tyr106Phe | |
| ENST00000566983.5:c.236A>T | ENSP00000457956.1:p.Tyr79Phe | |
| ENST00000568602.5:c.*170A>T | ENSP00000455066.1:n.*170A>T | |
| ENST00000569958.5:c.178+4467A>T | ENSP00000456302.1:n.178+4467A>T | |
| ENST00000570076.5:c.178+4467A>T | ENSP00000456961.1:n.178+4467A>T | |
| ENST00000570134.5:c.*39A>T | ENSP00000456275.1:n.*39A>T | |
| NM_000303.2:c.317A>T | NP_000294.1:p.Tyr106Phe | |
| XM_005255372.3:c.317A>T | XP_005255429.1:p.Tyr106Phe | |
| XM_005255373.3:c.68A>T | XP_005255430.1:p.Tyr23Phe | |
| XM_005255374.3:c.68A>T | XP_005255431.1:p.Tyr23Phe | |
| XM_011522538.1:c.317A>T | XP_011520840.1:p.Tyr106Phe | |
| XM_011522539.1:c.-29+4467A>T | XP_011520841.1:n.-29+4467A>T | |
| XM_005255374.4:c.68A>T | XP_005255431.1:p.Tyr23Phe | |
| NM_000303.3:c.317A>T MANE Select | NP_000294.1:p.Tyr106Phe |