Linked Data
ClinVar Variation Id:
216668
dbSNP Id:
rs781260818
ExAC:
17:41234463 G / A
gnomAD v2:
17-41234463-G-A
gnomAD v4:
17-43082446-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43082446G>A , CM000679.2:g.43082446G>A | GRCh38 |
| NC_000017.10:g.41234463G>A , CM000679.1:g.41234463G>A | GRCh37 |
| NC_000017.9:g.38487989G>A | NCBI36 |
| NG_005905.2:g.135538C>T , LRG_292:g.135538C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4315C>T | ENSP00000417241.2:p.Leu1439Phe | |
| ENST00000470026.6:c.4315C>T | ENSP00000419274.2:p.Leu1439Phe | |
| ENST00000473961.6:c.4189C>T | ENSP00000420201.2:p.Leu1397Phe | |
| ENST00000476777.6:c.4309C>T | ENSP00000417554.2:p.Leu1437Phe | |
| ENST00000477152.6:c.4237C>T | ENSP00000419988.2:p.Leu1413Phe | |
| ENST00000478531.6:c.1003C>T | ENSP00000420412.2:p.Leu335Phe | |
| ENST00000489037.2:c.4237C>T | ENSP00000420781.2:p.Leu1413Phe | |
| ENST00000493919.6:c.865C>T | ENSP00000418819.2:p.Leu289Phe | |
| ENST00000494123.6:c.4315C>T | ENSP00000419103.2:p.Leu1439Phe | |
| ENST00000497488.2:c.3427C>T | ENSP00000418986.2:p.Leu1143Phe | |
| ENST00000618469.2:c.4315C>T | ENSP00000478114.2:p.Leu1439Phe | |
| ENST00000634433.2:c.4192C>T | ENSP00000489431.2:p.Leu1398Phe | |
| ENST00000644379.2:c.4315C>T | ENSP00000496570.2:p.Leu1439Phe | |
| ENST00000644555.2:c.865C>T | ENSP00000494614.2:p.Leu289Phe | |
| ENST00000652672.2:c.4174C>T | ENSP00000498906.2:p.Leu1392Phe | |
| ENST00000484087.6:c.880C>T | ENSP00000419481.2:p.Leu294Phe | |
| ENST00000700182.1:c.925C>T | ENSP00000514849.1:p.Leu309Phe | |
| ENST00000357654.9:c.4315C>T MANE Select | ENSP00000350283.3:p.Leu1439Phe | |
| ENST00000471181.7:c.4315C>T | ENSP00000418960.2:p.Leu1439Phe | |
| ENST00000644379.1:c.636C>T | ||
| ENST00000352993.7:c.889C>T | ENSP00000312236.5:p.Leu297Phe | |
| ENST00000357654.7:c.4315C>T | ENSP00000350283.3:p.Leu1439Phe | |
| ENST00000461221.5:c.*4098C>T | ENSP00000418548.1:n.*4098C>T | |
| ENST00000461574.1:c.609C>T | ||
| ENST00000468300.5:c.1006C>T | ENSP00000417148.1:p.Leu336Phe | |
| ENST00000471181.6:c.4315C>T | ENSP00000418960.2:p.Leu1439Phe | |
| ENST00000478531.5:c.1003C>T | ENSP00000420412.1:p.Leu335Phe | |
| ENST00000484087.5:c.628C>T | ENSP00000419481.1:p.Leu210Phe | |
| ENST00000487825.5:c.631C>T | ENSP00000418212.1:p.Leu211Phe | |
| ENST00000491747.6:c.1006C>T | ENSP00000420705.2:p.Leu336Phe | |
| ENST00000493795.5:c.4174C>T | ENSP00000418775.1:p.Leu1392Phe | |
| ENST00000493919.5:c.865C>T | ENSP00000418819.1:p.Leu289Phe | |
| ENST00000586385.5:c.5-18495C>T | ENSP00000465818.1:n.5-18495C>T | |
| ENST00000591534.5:c.-43-7925C>T | ENSP00000467329.1:n.-43-7925C>T | |
| ENST00000591849.5:c.-98-32256C>T | ENSP00000465347.1:n.-98-32256C>T | |
| ENST00000621897.1:n.209C>T | ||
| NM_007294.3:c.4315C>T , LRG_292t1:c.4315C>T | NP_009225.1:p.Leu1439Phe | |
| NM_007297.3:c.4174C>T | NP_009228.2:p.Leu1392Phe | |
| NM_007298.3:c.1006C>T | NP_009229.2:p.Leu336Phe | |
| NM_007299.3:c.1006C>T | NP_009230.2:p.Leu336Phe | |
| NM_007300.3:c.4315C>T | NP_009231.2:p.Leu1439Phe | |
| NR_027676.1:n.4451C>T | ||
| NM_007294.4:c.4315C>T MANE Select | NP_009225.1:p.Leu1439Phe | |
| NM_007297.4:c.4174C>T | NP_009228.2:p.Leu1392Phe | |
| NM_007299.4:c.1006C>T | NP_009230.2:p.Leu336Phe | |
| NM_007300.4:c.4315C>T | NP_009231.2:p.Leu1439Phe | |
| NR_027676.2:n.4492C>T |