ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43049150T>A , CM000679.2:g.43049150T>A | GRCh38 |
| NC_000017.10:g.41201167T>A , CM000679.1:g.41201167T>A | GRCh37 |
| NC_000017.9:g.38454693T>A | NCBI36 |
| NG_005905.2:g.168834A>T , LRG_292:g.168834A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5374A>T | ENSP00000417241.2:p.Lys1792Ter | |
| ENST00000470026.6:c.5377A>T | ENSP00000419274.2:p.Lys1793Ter | |
| ENST00000473961.6:c.5251A>T | ENSP00000420201.2:p.Lys1751Ter | |
| ENST00000476777.6:c.5371A>T | ENSP00000417554.2:p.Lys1791Ter | |
| ENST00000477152.6:c.5299A>T | ENSP00000419988.2:p.Lys1767Ter | |
| ENST00000478531.6:c.2065A>T | ENSP00000420412.2:p.Lys689Ter | |
| ENST00000489037.2:c.5299A>T | ENSP00000420781.2:p.Lys1767Ter | |
| ENST00000493919.6:c.1927A>T | ENSP00000418819.2:p.Lys643Ter | |
| ENST00000494123.6:c.5377A>T | ENSP00000419103.2:p.Lys1793Ter | |
| ENST00000497488.2:c.4489A>T | ENSP00000418986.2:p.Lys1497Ter | |
| ENST00000618469.2:c.5377A>T | ENSP00000478114.2:p.Lys1793Ter | |
| ENST00000634433.2:c.5254A>T | ENSP00000489431.2:p.Lys1752Ter | |
| ENST00000644379.2:c.5443A>T | ENSP00000496570.2:p.Lys1815Ter | |
| ENST00000644555.2:c.1927A>T | ENSP00000494614.2:p.Lys643Ter | |
| ENST00000652672.2:c.5236A>T | ENSP00000498906.2:p.Lys1746Ter | |
| ENST00000484087.6:c.1939A>T | ENSP00000419481.2:p.Lys647Ter | |
| ENST00000700081.1:n.1260A>T | ||
| ENST00000357654.9:c.5377A>T MANE Select | ENSP00000350283.3:p.Lys1793Ter | |
| ENST00000471181.7:c.5440A>T | ENSP00000418960.2:p.Lys1814Ter | |
| ENST00000644379.1:c.1764A>T | ||
| ENST00000352993.7:c.1951A>T | ENSP00000312236.5:p.Lys651Ter | |
| ENST00000357654.7:c.5377A>T | ENSP00000350283.3:p.Lys1793Ter | |
| ENST00000461221.5:c.*5160A>T | ENSP00000418548.1:n.*5160A>T | |
| ENST00000468300.5:c.2021-1447A>T | ENSP00000417148.1:n.2021-1447A>T | |
| ENST00000471181.6:c.5440A>T | ENSP00000418960.2:p.Lys1814Ter | |
| ENST00000491747.6:c.2065A>T | ENSP00000420705.2:p.Lys689Ter | |
| ENST00000493795.5:c.5236A>T | ENSP00000418775.1:p.Lys1746Ter | |
| ENST00000586385.5:c.307A>T | ENSP00000465818.1:p.Lys103Ter | |
| ENST00000591534.5:c.850A>T | ENSP00000467329.1:p.Lys284Ter | |
| ENST00000591849.5:c.76A>T | ENSP00000465347.1:p.Lys26Ter | |
| NM_007294.3:c.5377A>T , LRG_292t1:c.5377A>T | NP_009225.1:p.Lys1793Ter | |
| NM_007297.3:c.5236A>T | NP_009228.2:p.Lys1746Ter | |
| NM_007298.3:c.2065A>T | NP_009229.2:p.Lys689Ter | |
| NM_007299.3:c.2021-1447A>T | NP_009230.2:n.2021-1447A>T | |
| NM_007300.3:c.5440A>T | NP_009231.2:p.Lys1814Ter | |
| NR_027676.1:n.5513A>T | ||
| NM_007294.4:c.5377A>T MANE Select | NP_009225.1:p.Lys1793Ter | |
| NM_007297.4:c.5236A>T | NP_009228.2:p.Lys1746Ter | |
| NM_007299.4:c.2021-1447A>T | NP_009230.2:n.2021-1447A>T | |
| NM_007300.4:c.5440A>T | NP_009231.2:p.Lys1814Ter | |
| NR_027676.2:n.5554A>T |