Linked Data
ClinVar Variation Id:
323416
ClinVar RCV Id:
RCV000389612
dbSNP Id:
rs540031582
ExAC:
17:41197002 G / A
gnomAD v2:
17-41197002-G-A
gnomAD v3:
17-43044985-G-A
gnomAD v4:
17-43044985-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43044985G>A , CM000679.2:g.43044985G>A | GRCh38 |
| NC_000017.10:g.41197002G>A , CM000679.1:g.41197002G>A | GRCh37 |
| NC_000017.9:g.38450528G>A | NCBI36 |
| NG_005905.2:g.172999C>T , LRG_292:g.172999C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.*693C>T | ENSP00000417241.2:n.*693C>T | |
| ENST00000470026.6:c.*693C>T | ENSP00000419274.2:n.*693C>T | |
| ENST00000473961.6:c.*693C>T | ENSP00000420201.2:n.*693C>T | |
| ENST00000476777.6:c.*693C>T | ENSP00000417554.2:n.*693C>T | |
| ENST00000477152.6:c.*693C>T | ENSP00000419988.2:n.*693C>T | |
| ENST00000478531.6:c.*693C>T | ENSP00000420412.2:n.*693C>T | |
| ENST00000489037.2:c.*693C>T | ENSP00000420781.2:n.*693C>T | |
| ENST00000493919.6:c.*693C>T | ENSP00000418819.2:n.*693C>T | |
| ENST00000494123.6:c.*693C>T | ENSP00000419103.2:n.*693C>T | |
| ENST00000497488.2:c.*693C>T | ENSP00000418986.2:n.*693C>T | |
| ENST00000618469.2:c.*693C>T | ENSP00000478114.2:n.*693C>T | |
| ENST00000634433.2:c.*693C>T | ENSP00000489431.2:n.*693C>T | |
| ENST00000644555.2:c.*693C>T | ENSP00000494614.2:n.*693C>T | |
| ENST00000652672.2:c.*693C>T | ENSP00000498906.2:n.*693C>T | |
| ENST00000700081.1:n.2168C>T | ||
| ENST00000700082.1:n.1649C>T | ||
| ENST00000357654.9:c.*693C>T MANE Select | ENSP00000350283.3:n.*693C>T | |
| ENST00000471181.7:c.*693C>T | ENSP00000418960.2:n.*693C>T | |
| ENST00000352993.7:c.*693C>T | ENSP00000312236.5:n.*693C>T | |
| ENST00000357654.7:c.*693C>T | ENSP00000350283.3:n.*693C>T | |
| ENST00000468300.5:c.*799C>T | ENSP00000417148.1:n.*799C>T | |
| NM_007294.3:c.*693C>T , LRG_292t1:c.*693C>T | NP_009225.1:n.*693C>T | |
| NM_007297.3:c.*693C>T | NP_009228.2:n.*693C>T | |
| NM_007298.3:c.*693C>T | NP_009229.2:n.*693C>T | |
| NM_007299.3:c.*799C>T | NP_009230.2:n.*799C>T | |
| NM_007300.3:c.*693C>T | NP_009231.2:n.*693C>T | |
| NR_027676.1:n.6421C>T | ||
| NM_007294.4:c.*693C>T MANE Select | NP_009225.1:n.*693C>T | |
| NM_007297.4:c.*693C>T | NP_009228.2:n.*693C>T | |
| NM_007299.4:c.*799C>T | NP_009230.2:n.*799C>T | |
| NM_007300.4:c.*693C>T | NP_009231.2:n.*693C>T | |
| NR_027676.2:n.6462C>T |