Linked Data
ClinVar Variation Id:
125727
dbSNP Id:
rs80358021
ExAC:
17:41223263 G / C
gnomAD v2:
17-41223263-G-C
gnomAD v3:
17-43071246-G-C
gnomAD v4:
17-43071246-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43071246G>C , CM000679.2:g.43071246G>C | GRCh38 |
| NC_000017.10:g.41223263G>C , CM000679.1:g.41223263G>C | GRCh37 |
| NC_000017.9:g.38476789G>C | NCBI36 |
| NG_005905.2:g.146738C>G , LRG_292:g.146738C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4673-8C>G | ENSP00000417241.2:n.4673-8C>G | |
| ENST00000470026.6:c.4676-8C>G | ENSP00000419274.2:n.4676-8C>G | |
| ENST00000473961.6:c.4550-8C>G | ENSP00000420201.2:n.4550-8C>G | |
| ENST00000476777.6:c.4670-8C>G | ENSP00000417554.2:n.4670-8C>G | |
| ENST00000477152.6:c.4598-8C>G | ENSP00000419988.2:n.4598-8C>G | |
| ENST00000478531.6:c.1364-8C>G | ENSP00000420412.2:n.1364-8C>G | |
| ENST00000489037.2:c.4598-8C>G | ENSP00000420781.2:n.4598-8C>G | |
| ENST00000493919.6:c.1226-8C>G | ENSP00000418819.2:n.1226-8C>G | |
| ENST00000494123.6:c.4676-8C>G | ENSP00000419103.2:n.4676-8C>G | |
| ENST00000497488.2:c.3788-8C>G | ENSP00000418986.2:n.3788-8C>G | |
| ENST00000618469.2:c.4676-8C>G | ENSP00000478114.2:n.4676-8C>G | |
| ENST00000634433.2:c.4553-8C>G | ENSP00000489431.2:n.4553-8C>G | |
| ENST00000644379.2:c.4742-8C>G | ENSP00000496570.2:n.4742-8C>G | |
| ENST00000644555.2:c.1226-8C>G | ENSP00000494614.2:n.1226-8C>G | |
| ENST00000652672.2:c.4535-8C>G | ENSP00000498906.2:n.4535-8C>G | |
| ENST00000484087.6:c.1238-8C>G | ENSP00000419481.2:n.1238-8C>G | |
| ENST00000700182.1:c.1283-8C>G | ENSP00000514849.1:n.1283-8C>G | |
| ENST00000357654.9:c.4676-8C>G MANE Select | ENSP00000350283.3:n.4676-8C>G | |
| ENST00000471181.7:c.4739-8C>G | ENSP00000418960.2:n.4739-8C>G | |
| ENST00000644379.1:c.1063-8C>G | ||
| ENST00000352993.7:c.1250-8C>G | ENSP00000312236.5:n.1250-8C>G | |
| ENST00000357654.7:c.4676-8C>G | ENSP00000350283.3:n.4676-8C>G | |
| ENST00000461221.5:c.*4459-8C>G | ENSP00000418548.1:n.*4459-8C>G | |
| ENST00000468300.5:c.1364-8C>G | ENSP00000417148.1:n.1364-8C>G | |
| ENST00000471181.6:c.4739-8C>G | ENSP00000418960.2:n.4739-8C>G | |
| ENST00000478531.5:c.1364-8C>G | ENSP00000420412.1:n.1364-8C>G | |
| ENST00000484087.5:c.989-8C>G | ENSP00000419481.1:n.989-8C>G | |
| ENST00000491747.6:c.1364-8C>G | ENSP00000420705.2:n.1364-8C>G | |
| ENST00000493795.5:c.4535-8C>G | ENSP00000418775.1:n.4535-8C>G | |
| ENST00000493919.5:c.1226-8C>G | ENSP00000418819.1:n.1226-8C>G | |
| ENST00000586385.5:c.5-7295C>G | ENSP00000465818.1:n.5-7295C>G | |
| ENST00000591534.5:c.149-8C>G | ENSP00000467329.1:n.149-8C>G | |
| ENST00000591849.5:c.-98-21056C>G | ENSP00000465347.1:n.-98-21056C>G | |
| NM_007294.3:c.4676-8C>G , LRG_292t1:c.4676-8C>G | NP_009225.1:n.4676-8C>G | |
| NM_007297.3:c.4535-8C>G | NP_009228.2:n.4535-8C>G | |
| NM_007298.3:c.1364-8C>G | NP_009229.2:n.1364-8C>G | |
| NM_007299.3:c.1364-8C>G | NP_009230.2:n.1364-8C>G | |
| NM_007300.3:c.4739-8C>G | NP_009231.2:n.4739-8C>G | |
| NR_027676.1:n.4812-8C>G | ||
| NM_007294.4:c.4676-8C>G MANE Select | NP_009225.1:n.4676-8C>G | |
| NM_007297.4:c.4535-8C>G | NP_009228.2:n.4535-8C>G | |
| NM_007299.4:c.1364-8C>G | NP_009230.2:n.1364-8C>G | |
| NM_007300.4:c.4739-8C>G | NP_009231.2:n.4739-8C>G | |
| NR_027676.2:n.4853-8C>G |