Linked Data
ClinVar Variation Id:
433716
ClinVar RCV Id:
RCV000504104
RCV000532651
RCV000735520
RCV000776618
RCV000758836
RCV000765359
RCV003330731
RCV004003514
dbSNP Id:
rs1265352633
gnomAD v2:
17-41226369-A-G
gnomAD v4:
17-43074352-A-G
PubMed:
PMID:22713736
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43074352A>G , CM000679.2:g.43074352A>G | GRCh38 |
| NC_000017.10:g.41226369A>G , CM000679.1:g.41226369A>G | GRCh37 |
| NC_000017.9:g.38479895A>G | NCBI36 |
| NG_005905.2:g.143632T>C , LRG_292:g.143632T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4651T>C | ENSP00000417241.2:p.Tyr1551His | |
| ENST00000470026.6:c.4654T>C | ENSP00000419274.2:p.Tyr1552His | |
| ENST00000473961.6:c.4528T>C | ENSP00000420201.2:p.Tyr1510His | |
| ENST00000476777.6:c.4648T>C | ENSP00000417554.2:p.Tyr1550His | |
| ENST00000477152.6:c.4576T>C | ENSP00000419988.2:p.Tyr1526His | |
| ENST00000478531.6:c.1342T>C | ENSP00000420412.2:p.Tyr448His | |
| ENST00000489037.2:c.4576T>C | ENSP00000420781.2:p.Tyr1526His | |
| ENST00000493919.6:c.1204T>C | ENSP00000418819.2:p.Tyr402His | |
| ENST00000494123.6:c.4654T>C | ENSP00000419103.2:p.Tyr1552His | |
| ENST00000497488.2:c.3766T>C | ENSP00000418986.2:p.Tyr1256His | |
| ENST00000618469.2:c.4654T>C | ENSP00000478114.2:p.Tyr1552His | |
| ENST00000634433.2:c.4531T>C | ENSP00000489431.2:p.Tyr1511His | |
| ENST00000644379.2:c.4720T>C | ENSP00000496570.2:p.Tyr1574His | |
| ENST00000644555.2:c.1204T>C | ENSP00000494614.2:p.Tyr402His | |
| ENST00000652672.2:c.4513T>C | ENSP00000498906.2:p.Tyr1505His | |
| ENST00000484087.6:c.1216T>C | ENSP00000419481.2:p.Tyr406His | |
| ENST00000700182.1:c.1261T>C | ENSP00000514849.1:p.Tyr421His | |
| ENST00000357654.9:c.4654T>C MANE Select | ENSP00000350283.3:p.Tyr1552His | |
| ENST00000471181.7:c.4717T>C | ENSP00000418960.2:p.Tyr1573His | |
| ENST00000644379.1:c.1041T>C | ||
| ENST00000352993.7:c.1228T>C | ENSP00000312236.5:p.Tyr410His | |
| ENST00000357654.7:c.4654T>C | ENSP00000350283.3:p.Tyr1552His | |
| ENST00000461221.5:c.*4437T>C | ENSP00000418548.1:n.*4437T>C | |
| ENST00000468300.5:c.1342T>C | ENSP00000417148.1:p.Tyr448His | |
| ENST00000471181.6:c.4717T>C | ENSP00000418960.2:p.Tyr1573His | |
| ENST00000478531.5:c.1342T>C | ENSP00000420412.1:p.Tyr448His | |
| ENST00000484087.5:c.967T>C | ENSP00000419481.1:p.Tyr323His | |
| ENST00000491747.6:c.1342T>C | ENSP00000420705.2:p.Tyr448His | |
| ENST00000493795.5:c.4513T>C | ENSP00000418775.1:p.Tyr1505His | |
| ENST00000493919.5:c.1204T>C | ENSP00000418819.1:p.Tyr402His | |
| ENST00000586385.5:c.5-10401T>C | ENSP00000465818.1:n.5-10401T>C | |
| ENST00000591534.5:c.127T>C | ENSP00000467329.1:p.Tyr43His | |
| ENST00000591849.5:c.-98-24162T>C | ENSP00000465347.1:n.-98-24162T>C | |
| NM_007294.3:c.4654T>C , LRG_292t1:c.4654T>C | NP_009225.1:p.Tyr1552His | |
| NM_007297.3:c.4513T>C | NP_009228.2:p.Tyr1505His | |
| NM_007298.3:c.1342T>C | NP_009229.2:p.Tyr448His | |
| NM_007299.3:c.1342T>C | NP_009230.2:p.Tyr448His | |
| NM_007300.3:c.4717T>C | NP_009231.2:p.Tyr1573His | |
| NR_027676.1:n.4790T>C | ||
| NM_007294.4:c.4654T>C MANE Select | NP_009225.1:p.Tyr1552His | |
| NM_007297.4:c.4513T>C | NP_009228.2:p.Tyr1505His | |
| NM_007299.4:c.1342T>C | NP_009230.2:p.Tyr448His | |
| NM_007300.4:c.4717T>C | NP_009231.2:p.Tyr1573His | |
| NR_027676.2:n.4831T>C |