Linked Data
ClinVar Variation Id:
323419
ClinVar RCV Id:
RCV000282439
dbSNP Id:
rs886052973
gnomAD v3:
17-43045291-A-C
gnomAD v4:
17-43045291-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43045291A>C , CM000679.2:g.43045291A>C | GRCh38 |
| NC_000017.10:g.41197308A>C , CM000679.1:g.41197308A>C | GRCh37 |
| NC_000017.9:g.38450834A>C | NCBI36 |
| NG_005905.2:g.172693T>G , LRG_292:g.172693T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.*387T>G | ENSP00000417241.2:n.*387T>G | |
| ENST00000470026.6:c.*387T>G | ENSP00000419274.2:n.*387T>G | |
| ENST00000473961.6:c.*387T>G | ENSP00000420201.2:n.*387T>G | |
| ENST00000476777.6:c.*387T>G | ENSP00000417554.2:n.*387T>G | |
| ENST00000477152.6:c.*387T>G | ENSP00000419988.2:n.*387T>G | |
| ENST00000478531.6:c.*387T>G | ENSP00000420412.2:n.*387T>G | |
| ENST00000489037.2:c.*387T>G | ENSP00000420781.2:n.*387T>G | |
| ENST00000493919.6:c.*387T>G | ENSP00000418819.2:n.*387T>G | |
| ENST00000494123.6:c.*387T>G | ENSP00000419103.2:n.*387T>G | |
| ENST00000497488.2:c.*387T>G | ENSP00000418986.2:n.*387T>G | |
| ENST00000618469.2:c.*387T>G | ENSP00000478114.2:n.*387T>G | |
| ENST00000634433.2:c.*387T>G | ENSP00000489431.2:n.*387T>G | |
| ENST00000644379.2:c.*387T>G | ENSP00000496570.2:n.*387T>G | |
| ENST00000644555.2:c.*387T>G | ENSP00000494614.2:n.*387T>G | |
| ENST00000652672.2:c.*387T>G | ENSP00000498906.2:n.*387T>G | |
| ENST00000700081.1:n.1862T>G | ||
| ENST00000700082.1:n.1343T>G | ||
| ENST00000357654.9:c.*387T>G MANE Select | ENSP00000350283.3:n.*387T>G | |
| ENST00000471181.7:c.*387T>G | ENSP00000418960.2:n.*387T>G | |
| ENST00000644379.1:c.2366T>G | ||
| ENST00000352993.7:c.*387T>G | ENSP00000312236.5:n.*387T>G | |
| ENST00000357654.7:c.*387T>G | ENSP00000350283.3:n.*387T>G | |
| ENST00000468300.5:c.*493T>G | ENSP00000417148.1:n.*493T>G | |
| NM_007294.3:c.*387T>G , LRG_292t1:c.*387T>G | NP_009225.1:n.*387T>G | |
| NM_007297.3:c.*387T>G | NP_009228.2:n.*387T>G | |
| NM_007298.3:c.*387T>G | NP_009229.2:n.*387T>G | |
| NM_007299.3:c.*493T>G | NP_009230.2:n.*493T>G | |
| NM_007300.3:c.*387T>G | NP_009231.2:n.*387T>G | |
| NR_027676.1:n.6115T>G | ||
| NM_007294.4:c.*387T>G MANE Select | NP_009225.1:n.*387T>G | |
| NM_007297.4:c.*387T>G | NP_009228.2:n.*387T>G | |
| NM_007299.4:c.*493T>G | NP_009230.2:n.*493T>G | |
| NM_007300.4:c.*387T>G | NP_009231.2:n.*387T>G | |
| NR_027676.2:n.6156T>G |