Linked Data
ClinVar Variation Id:
240821
dbSNP Id:
rs878854958
gnomAD v2:
17-41201161-G-A
gnomAD v4:
17-43049144-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43049144G>A , CM000679.2:g.43049144G>A | GRCh38 |
| NC_000017.10:g.41201161G>A , CM000679.1:g.41201161G>A | GRCh37 |
| NC_000017.9:g.38454687G>A | NCBI36 |
| NG_005905.2:g.168840C>T , LRG_292:g.168840C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5380C>T | ENSP00000417241.2:p.Leu1794Phe | |
| ENST00000470026.6:c.5383C>T | ENSP00000419274.2:p.Leu1795Phe | |
| ENST00000473961.6:c.5257C>T | ENSP00000420201.2:p.Leu1753Phe | |
| ENST00000476777.6:c.5377C>T | ENSP00000417554.2:p.Leu1793Phe | |
| ENST00000477152.6:c.5305C>T | ENSP00000419988.2:p.Leu1769Phe | |
| ENST00000478531.6:c.2071C>T | ENSP00000420412.2:p.Leu691Phe | |
| ENST00000489037.2:c.5305C>T | ENSP00000420781.2:p.Leu1769Phe | |
| ENST00000493919.6:c.1933C>T | ENSP00000418819.2:p.Leu645Phe | |
| ENST00000494123.6:c.5383C>T | ENSP00000419103.2:p.Leu1795Phe | |
| ENST00000497488.2:c.4495C>T | ENSP00000418986.2:p.Leu1499Phe | |
| ENST00000618469.2:c.5383C>T | ENSP00000478114.2:p.Leu1795Phe | |
| ENST00000634433.2:c.5260C>T | ENSP00000489431.2:p.Leu1754Phe | |
| ENST00000644379.2:c.5449C>T | ENSP00000496570.2:p.Leu1817Phe | |
| ENST00000644555.2:c.1933C>T | ENSP00000494614.2:p.Leu645Phe | |
| ENST00000652672.2:c.5242C>T | ENSP00000498906.2:p.Leu1748Phe | |
| ENST00000484087.6:c.1945C>T | ENSP00000419481.2:p.Leu649Phe | |
| ENST00000700081.1:n.1266C>T | ||
| ENST00000357654.9:c.5383C>T MANE Select | ENSP00000350283.3:p.Leu1795Phe | |
| ENST00000471181.7:c.5446C>T | ENSP00000418960.2:p.Leu1816Phe | |
| ENST00000644379.1:c.1770C>T | ||
| ENST00000352993.7:c.1957C>T | ENSP00000312236.5:p.Leu653Phe | |
| ENST00000357654.7:c.5383C>T | ENSP00000350283.3:p.Leu1795Phe | |
| ENST00000461221.5:c.*5166C>T | ENSP00000418548.1:n.*5166C>T | |
| ENST00000468300.5:c.2021-1441C>T | ENSP00000417148.1:n.2021-1441C>T | |
| ENST00000471181.6:c.5446C>T | ENSP00000418960.2:p.Leu1816Phe | |
| ENST00000491747.6:c.2071C>T | ENSP00000420705.2:p.Leu691Phe | |
| ENST00000493795.5:c.5242C>T | ENSP00000418775.1:p.Leu1748Phe | |
| ENST00000586385.5:c.313C>T | ENSP00000465818.1:p.Leu105Phe | |
| ENST00000591534.5:c.856C>T | ENSP00000467329.1:p.Leu286Phe | |
| ENST00000591849.5:c.82C>T | ENSP00000465347.1:p.Leu28Phe | |
| NM_007294.3:c.5383C>T , LRG_292t1:c.5383C>T | NP_009225.1:p.Leu1795Phe | |
| NM_007297.3:c.5242C>T | NP_009228.2:p.Leu1748Phe | |
| NM_007298.3:c.2071C>T | NP_009229.2:p.Leu691Phe | |
| NM_007299.3:c.2021-1441C>T | NP_009230.2:n.2021-1441C>T | |
| NM_007300.3:c.5446C>T | NP_009231.2:p.Leu1816Phe | |
| NR_027676.1:n.5519C>T | ||
| NM_007294.4:c.5383C>T MANE Select | NP_009225.1:p.Leu1795Phe | |
| NM_007297.4:c.5242C>T | NP_009228.2:p.Leu1748Phe | |
| NM_007299.4:c.2021-1441C>T | NP_009230.2:n.2021-1441C>T | |
| NM_007300.4:c.5446C>T | NP_009231.2:p.Leu1816Phe | |
| NR_027676.2:n.5560C>T |