Linked Data
ClinVar Variation Id:
55254
dbSNP Id:
rs80357431
ExAC:
17:41226366 A / T
gnomAD v2:
17-41226366-A-T
gnomAD v4:
17-43074349-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43074349A>T , CM000679.2:g.43074349A>T | GRCh38 |
| NC_000017.10:g.41226366A>T , CM000679.1:g.41226366A>T | GRCh37 |
| NC_000017.9:g.38479892A>T | NCBI36 |
| NG_005905.2:g.143635T>A , LRG_292:g.143635T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4654T>A | ENSP00000417241.2:p.Leu1552Met | |
| ENST00000470026.6:c.4657T>A | ENSP00000419274.2:p.Leu1553Met | |
| ENST00000473961.6:c.4531T>A | ENSP00000420201.2:p.Leu1511Met | |
| ENST00000476777.6:c.4651T>A | ENSP00000417554.2:p.Leu1551Met | |
| ENST00000477152.6:c.4579T>A | ENSP00000419988.2:p.Leu1527Met | |
| ENST00000478531.6:c.1345T>A | ENSP00000420412.2:p.Leu449Met | |
| ENST00000489037.2:c.4579T>A | ENSP00000420781.2:p.Leu1527Met | |
| ENST00000493919.6:c.1207T>A | ENSP00000418819.2:p.Leu403Met | |
| ENST00000494123.6:c.4657T>A | ENSP00000419103.2:p.Leu1553Met | |
| ENST00000497488.2:c.3769T>A | ENSP00000418986.2:p.Leu1257Met | |
| ENST00000618469.2:c.4657T>A | ENSP00000478114.2:p.Leu1553Met | |
| ENST00000634433.2:c.4534T>A | ENSP00000489431.2:p.Leu1512Met | |
| ENST00000644379.2:c.4723T>A | ENSP00000496570.2:p.Leu1575Met | |
| ENST00000644555.2:c.1207T>A | ENSP00000494614.2:p.Leu403Met | |
| ENST00000652672.2:c.4516T>A | ENSP00000498906.2:p.Leu1506Met | |
| ENST00000484087.6:c.1219T>A | ENSP00000419481.2:p.Leu407Met | |
| ENST00000700182.1:c.1264T>A | ENSP00000514849.1:p.Leu422Met | |
| ENST00000357654.9:c.4657T>A MANE Select | ENSP00000350283.3:p.Leu1553Met | |
| ENST00000471181.7:c.4720T>A | ENSP00000418960.2:p.Leu1574Met | |
| ENST00000644379.1:c.1044T>A | ||
| ENST00000352993.7:c.1231T>A | ENSP00000312236.5:p.Leu411Met | |
| ENST00000357654.7:c.4657T>A | ENSP00000350283.3:p.Leu1553Met | |
| ENST00000461221.5:c.*4440T>A | ENSP00000418548.1:n.*4440T>A | |
| ENST00000468300.5:c.1345T>A | ENSP00000417148.1:p.Leu449Met | |
| ENST00000471181.6:c.4720T>A | ENSP00000418960.2:p.Leu1574Met | |
| ENST00000478531.5:c.1345T>A | ENSP00000420412.1:p.Leu449Met | |
| ENST00000484087.5:c.970T>A | ENSP00000419481.1:p.Leu324Met | |
| ENST00000491747.6:c.1345T>A | ENSP00000420705.2:p.Leu449Met | |
| ENST00000493795.5:c.4516T>A | ENSP00000418775.1:p.Leu1506Met | |
| ENST00000493919.5:c.1207T>A | ENSP00000418819.1:p.Leu403Met | |
| ENST00000586385.5:c.5-10398T>A | ENSP00000465818.1:n.5-10398T>A | |
| ENST00000591534.5:c.130T>A | ENSP00000467329.1:p.Leu44Met | |
| ENST00000591849.5:c.-98-24159T>A | ENSP00000465347.1:n.-98-24159T>A | |
| NM_007294.3:c.4657T>A , LRG_292t1:c.4657T>A | NP_009225.1:p.Leu1553Met | |
| NM_007297.3:c.4516T>A | NP_009228.2:p.Leu1506Met | |
| NM_007298.3:c.1345T>A | NP_009229.2:p.Leu449Met | |
| NM_007299.3:c.1345T>A | NP_009230.2:p.Leu449Met | |
| NM_007300.3:c.4720T>A | NP_009231.2:p.Leu1574Met | |
| NR_027676.1:n.4793T>A | ||
| NM_007294.4:c.4657T>A MANE Select | NP_009225.1:p.Leu1553Met | |
| NM_007297.4:c.4516T>A | NP_009228.2:p.Leu1506Met | |
| NM_007299.4:c.1345T>A | NP_009230.2:p.Leu449Met | |
| NM_007300.4:c.4720T>A | NP_009231.2:p.Leu1574Met | |
| NR_027676.2:n.4834T>A |