Linked Data
ClinVar Variation Id:
2829766
ClinVar RCV Id:
RCV003645741
dbSNP Id:
rs2154147299
MyVariant Identifiers:
chr17:g.41234452C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43082435C>A , CM000679.2:g.43082435C>A | GRCh38 |
| NC_000017.10:g.41234452C>A , CM000679.1:g.41234452C>A | GRCh37 |
| NC_000017.9:g.38487978C>A | NCBI36 |
| NG_005905.2:g.135549G>T , LRG_292:g.135549G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4326G>T | ENSP00000417241.2:p.Leu1442= | |
| ENST00000470026.6:c.4326G>T | ENSP00000419274.2:p.Leu1442= | |
| ENST00000473961.6:c.4200G>T | ENSP00000420201.2:p.Leu1400= | |
| ENST00000476777.6:c.4320G>T | ENSP00000417554.2:p.Leu1440= | |
| ENST00000477152.6:c.4248G>T | ENSP00000419988.2:p.Leu1416= | |
| ENST00000478531.6:c.1014G>T | ENSP00000420412.2:p.Leu338= | |
| ENST00000489037.2:c.4248G>T | ENSP00000420781.2:p.Leu1416= | |
| ENST00000493919.6:c.876G>T | ENSP00000418819.2:p.Leu292= | |
| ENST00000494123.6:c.4326G>T | ENSP00000419103.2:p.Leu1442= | |
| ENST00000497488.2:c.3438G>T | ENSP00000418986.2:p.Leu1146= | |
| ENST00000618469.2:c.4326G>T | ENSP00000478114.2:p.Leu1442= | |
| ENST00000634433.2:c.4203G>T | ENSP00000489431.2:p.Leu1401= | |
| ENST00000644379.2:c.4326G>T | ENSP00000496570.2:p.Leu1442= | |
| ENST00000644555.2:c.876G>T | ENSP00000494614.2:p.Leu292= | |
| ENST00000652672.2:c.4185G>T | ENSP00000498906.2:p.Leu1395= | |
| ENST00000484087.6:c.891G>T | ENSP00000419481.2:p.Leu297= | |
| ENST00000700182.1:c.936G>T | ENSP00000514849.1:p.Leu312= | |
| ENST00000357654.9:c.4326G>T MANE Select | ENSP00000350283.3:p.Leu1442= | |
| ENST00000471181.7:c.4326G>T | ENSP00000418960.2:p.Leu1442= | |
| ENST00000644379.1:c.647G>T | ||
| ENST00000352993.7:c.900G>T | ENSP00000312236.5:p.Leu300= | |
| ENST00000357654.7:c.4326G>T | ENSP00000350283.3:p.Leu1442= | |
| ENST00000461221.5:c.*4109G>T | ENSP00000418548.1:n.*4109G>T | |
| ENST00000461574.1:c.620G>T | ||
| ENST00000468300.5:c.1017G>T | ENSP00000417148.1:p.Leu339= | |
| ENST00000471181.6:c.4326G>T | ENSP00000418960.2:p.Leu1442= | |
| ENST00000478531.5:c.1014G>T | ENSP00000420412.1:p.Leu338= | |
| ENST00000484087.5:c.639G>T | ENSP00000419481.1:p.Leu213= | |
| ENST00000487825.5:c.642G>T | ENSP00000418212.1:p.Leu214= | |
| ENST00000491747.6:c.1017G>T | ENSP00000420705.2:p.Leu339= | |
| ENST00000493795.5:c.4185G>T | ENSP00000418775.1:p.Leu1395= | |
| ENST00000493919.5:c.876G>T | ENSP00000418819.1:p.Leu292= | |
| ENST00000586385.5:c.5-18484G>T | ENSP00000465818.1:n.5-18484G>T | |
| ENST00000591534.5:c.-43-7914G>T | ENSP00000467329.1:n.-43-7914G>T | |
| ENST00000591849.5:c.-98-32245G>T | ENSP00000465347.1:n.-98-32245G>T | |
| ENST00000621897.1:n.220G>T | ||
| NM_007294.3:c.4326G>T , LRG_292t1:c.4326G>T | NP_009225.1:p.Leu1442= | |
| NM_007297.3:c.4185G>T | NP_009228.2:p.Leu1395= | |
| NM_007298.3:c.1017G>T | NP_009229.2:p.Leu339= | |
| NM_007299.3:c.1017G>T | NP_009230.2:p.Leu339= | |
| NM_007300.3:c.4326G>T | NP_009231.2:p.Leu1442= | |
| NR_027676.1:n.4462G>T | ||
| NM_007294.4:c.4326G>T MANE Select | NP_009225.1:p.Leu1442= | |
| NM_007297.4:c.4185G>T | NP_009228.2:p.Leu1395= | |
| NM_007299.4:c.1017G>T | NP_009230.2:p.Leu339= | |
| NM_007300.4:c.4326G>T | NP_009231.2:p.Leu1442= | |
| NR_027676.2:n.4503G>T |