Linked Data
dbSNP Id:
rs781746476
ExAC:
17:41228550 G / A
gnomAD v2:
17-41228550-G-A
gnomAD v4:
17-43076533-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43076533G>A , CM000679.2:g.43076533G>A | GRCh38 |
| NC_000017.10:g.41228550G>A , CM000679.1:g.41228550G>A | GRCh37 |
| NC_000017.9:g.38482076G>A | NCBI36 |
| NG_005905.2:g.141451C>T , LRG_292:g.141451C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4436C>T | ENSP00000417241.2:p.Ser1479Phe | |
| ENST00000470026.6:c.4439C>T | ENSP00000419274.2:p.Ser1480Phe | |
| ENST00000473961.6:c.4313C>T | ENSP00000420201.2:p.Ser1438Phe | |
| ENST00000476777.6:c.4433C>T | ENSP00000417554.2:p.Ser1478Phe | |
| ENST00000477152.6:c.4361C>T | ENSP00000419988.2:p.Ser1454Phe | |
| ENST00000478531.6:c.1127C>T | ENSP00000420412.2:p.Ser376Phe | |
| ENST00000489037.2:c.4361C>T | ENSP00000420781.2:p.Ser1454Phe | |
| ENST00000493919.6:c.989C>T | ENSP00000418819.2:p.Ser330Phe | |
| ENST00000494123.6:c.4439C>T | ENSP00000419103.2:p.Ser1480Phe | |
| ENST00000497488.2:c.3551C>T | ENSP00000418986.2:p.Ser1184Phe | |
| ENST00000618469.2:c.4439C>T | ENSP00000478114.2:p.Ser1480Phe | |
| ENST00000634433.2:c.4316C>T | ENSP00000489431.2:p.Ser1439Phe | |
| ENST00000644379.2:c.4505C>T | ENSP00000496570.2:p.Ser1502Phe | |
| ENST00000644555.2:c.989C>T | ENSP00000494614.2:p.Ser330Phe | |
| ENST00000652672.2:c.4298C>T | ENSP00000498906.2:p.Ser1433Phe | |
| ENST00000484087.6:c.1001C>T | ENSP00000419481.2:p.Ser334Phe | |
| ENST00000700182.1:c.1046C>T | ENSP00000514849.1:p.Ser349Phe | |
| ENST00000357654.9:c.4439C>T MANE Select | ENSP00000350283.3:p.Ser1480Phe | |
| ENST00000471181.7:c.4502C>T | ENSP00000418960.2:p.Ser1501Phe | |
| ENST00000644379.1:c.826C>T | ||
| ENST00000352993.7:c.1013C>T | ENSP00000312236.5:p.Ser338Phe | |
| ENST00000357654.7:c.4439C>T | ENSP00000350283.3:p.Ser1480Phe | |
| ENST00000461221.5:c.*4222C>T | ENSP00000418548.1:n.*4222C>T | |
| ENST00000468300.5:c.1127C>T | ENSP00000417148.1:p.Ser376Phe | |
| ENST00000471181.6:c.4502C>T | ENSP00000418960.2:p.Ser1501Phe | |
| ENST00000478531.5:c.1127C>T | ENSP00000420412.1:p.Ser376Phe | |
| ENST00000484087.5:c.752C>T | ENSP00000419481.1:p.Ser251Phe | |
| ENST00000487825.5:c.755C>T | ENSP00000418212.1:p.Ser252Phe | |
| ENST00000491747.6:c.1127C>T | ENSP00000420705.2:p.Ser376Phe | |
| ENST00000493795.5:c.4298C>T | ENSP00000418775.1:p.Ser1433Phe | |
| ENST00000493919.5:c.989C>T | ENSP00000418819.1:p.Ser330Phe | |
| ENST00000586385.5:c.5-12582C>T | ENSP00000465818.1:n.5-12582C>T | |
| ENST00000591534.5:c.-43-2012C>T | ENSP00000467329.1:n.-43-2012C>T | |
| ENST00000591849.5:c.-98-26343C>T | ENSP00000465347.1:n.-98-26343C>T | |
| ENST00000621897.1:n.330C>T | ||
| NM_007294.3:c.4439C>T , LRG_292t1:c.4439C>T | NP_009225.1:p.Ser1480Phe | |
| NM_007297.3:c.4298C>T | NP_009228.2:p.Ser1433Phe | |
| NM_007298.3:c.1127C>T | NP_009229.2:p.Ser376Phe | |
| NM_007299.3:c.1127C>T | NP_009230.2:p.Ser376Phe | |
| NM_007300.3:c.4502C>T | NP_009231.2:p.Ser1501Phe | |
| NR_027676.1:n.4575C>T | ||
| NM_007294.4:c.4439C>T MANE Select | NP_009225.1:p.Ser1480Phe | |
| NM_007297.4:c.4298C>T | NP_009228.2:p.Ser1433Phe | |
| NM_007299.4:c.1127C>T | NP_009230.2:p.Ser376Phe | |
| NM_007300.4:c.4502C>T | NP_009231.2:p.Ser1501Phe | |
| NR_027676.2:n.4616C>T |