Linked Data
ClinVar Variation Id:
409300
dbSNP Id:
rs910555398
gnomAD v2:
17-41215942-G-T
gnomAD v3:
17-43063925-G-T
gnomAD v4:
17-43063925-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43063925G>T , CM000679.2:g.43063925G>T | GRCh38 |
| NC_000017.10:g.41215942G>T , CM000679.1:g.41215942G>T | GRCh37 |
| NC_000017.9:g.38469468G>T | NCBI36 |
| NG_005905.2:g.154059C>A , LRG_292:g.154059C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5098C>A | ENSP00000417241.2:p.Leu1700Met | |
| ENST00000470026.6:c.5101C>A | ENSP00000419274.2:p.Leu1701Met | |
| ENST00000473961.6:c.4975C>A | ENSP00000420201.2:p.Leu1659Met | |
| ENST00000476777.6:c.5095C>A | ENSP00000417554.2:p.Leu1699Met | |
| ENST00000477152.6:c.5023C>A | ENSP00000419988.2:p.Leu1675Met | |
| ENST00000478531.6:c.1789C>A | ENSP00000420412.2:p.Leu597Met | |
| ENST00000489037.2:c.5023C>A | ENSP00000420781.2:p.Leu1675Met | |
| ENST00000493919.6:c.1651C>A | ENSP00000418819.2:p.Leu551Met | |
| ENST00000494123.6:c.5101C>A | ENSP00000419103.2:p.Leu1701Met | |
| ENST00000497488.2:c.4213C>A | ENSP00000418986.2:p.Leu1405Met | |
| ENST00000618469.2:c.5101C>A | ENSP00000478114.2:p.Leu1701Met | |
| ENST00000634433.2:c.4978C>A | ENSP00000489431.2:p.Leu1660Met | |
| ENST00000644379.2:c.5167C>A | ENSP00000496570.2:p.Leu1723Met | |
| ENST00000644555.2:c.1651C>A | ENSP00000494614.2:p.Leu551Met | |
| ENST00000652672.2:c.4960C>A | ENSP00000498906.2:p.Leu1654Met | |
| ENST00000484087.6:c.1663C>A | ENSP00000419481.2:p.Leu555Met | |
| ENST00000357654.9:c.5101C>A MANE Select | ENSP00000350283.3:p.Leu1701Met | |
| ENST00000471181.7:c.5164C>A | ENSP00000418960.2:p.Leu1722Met | |
| ENST00000644379.1:c.1488C>A | ||
| ENST00000352993.7:c.1675C>A | ENSP00000312236.5:p.Leu559Met | |
| ENST00000357654.7:c.5101C>A | ENSP00000350283.3:p.Leu1701Met | |
| ENST00000461221.5:c.*4884C>A | ENSP00000418548.1:n.*4884C>A | |
| ENST00000468300.5:c.1789C>A | ENSP00000417148.1:p.Leu597Met | |
| ENST00000471181.6:c.5164C>A | ENSP00000418960.2:p.Leu1722Met | |
| ENST00000478531.5:c.1789C>A | ENSP00000420412.1:p.Leu597Met | |
| ENST00000484087.5:c.1414C>A | ENSP00000419481.1:p.Leu472Met | |
| ENST00000491747.6:c.1789C>A | ENSP00000420705.2:p.Leu597Met | |
| ENST00000493795.5:c.4960C>A | ENSP00000418775.1:p.Leu1654Met | |
| ENST00000493919.5:c.1651C>A | ENSP00000418819.1:p.Leu551Met | |
| ENST00000586385.5:c.31C>A | ENSP00000465818.1:p.Leu11Met | |
| ENST00000591534.5:c.574C>A | ENSP00000467329.1:p.Leu192Met | |
| ENST00000591849.5:c.-98-13735C>A | ENSP00000465347.1:n.-98-13735C>A | |
| NM_007294.3:c.5101C>A , LRG_292t1:c.5101C>A | NP_009225.1:p.Leu1701Met | |
| NM_007297.3:c.4960C>A | NP_009228.2:p.Leu1654Met | |
| NM_007298.3:c.1789C>A | NP_009229.2:p.Leu597Met | |
| NM_007299.3:c.1789C>A | NP_009230.2:p.Leu597Met | |
| NM_007300.3:c.5164C>A | NP_009231.2:p.Leu1722Met | |
| NR_027676.1:n.5237C>A | ||
| NM_007294.4:c.5101C>A MANE Select | NP_009225.1:p.Leu1701Met | |
| NM_007297.4:c.4960C>A | NP_009228.2:p.Leu1654Met | |
| NM_007299.4:c.1789C>A | NP_009230.2:p.Leu597Met | |
| NM_007300.4:c.5164C>A | NP_009231.2:p.Leu1722Met | |
| NR_027676.2:n.5278C>A |