Linked Data
ClinVar Variation Id:
864968
ClinVar RCV Id:
RCV001072275
dbSNP Id:
rs2051921852
gnomAD v4:
17-43063914-A-G
MyVariant Identifiers:
chr17:g.41215931A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43063914A>G , CM000679.2:g.43063914A>G | GRCh38 |
| NC_000017.10:g.41215931A>G , CM000679.1:g.41215931A>G | GRCh37 |
| NC_000017.9:g.38469457A>G | NCBI36 |
| NG_005905.2:g.154070T>C , LRG_292:g.154070T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5109T>C | ENSP00000417241.2:p.Phe1703= | |
| ENST00000470026.6:c.5112T>C | ENSP00000419274.2:p.Phe1704= | |
| ENST00000473961.6:c.4986T>C | ENSP00000420201.2:p.Phe1662= | |
| ENST00000476777.6:c.5106T>C | ENSP00000417554.2:p.Phe1702= | |
| ENST00000477152.6:c.5034T>C | ENSP00000419988.2:p.Phe1678= | |
| ENST00000478531.6:c.1800T>C | ENSP00000420412.2:p.Phe600= | |
| ENST00000489037.2:c.5034T>C | ENSP00000420781.2:p.Phe1678= | |
| ENST00000493919.6:c.1662T>C | ENSP00000418819.2:p.Phe554= | |
| ENST00000494123.6:c.5112T>C | ENSP00000419103.2:p.Phe1704= | |
| ENST00000497488.2:c.4224T>C | ENSP00000418986.2:p.Phe1408= | |
| ENST00000618469.2:c.5112T>C | ENSP00000478114.2:p.Phe1704= | |
| ENST00000634433.2:c.4989T>C | ENSP00000489431.2:p.Phe1663= | |
| ENST00000644379.2:c.5178T>C | ENSP00000496570.2:p.Phe1726= | |
| ENST00000644555.2:c.1662T>C | ENSP00000494614.2:p.Phe554= | |
| ENST00000652672.2:c.4971T>C | ENSP00000498906.2:p.Phe1657= | |
| ENST00000484087.6:c.1674T>C | ENSP00000419481.2:p.Phe558= | |
| ENST00000357654.9:c.5112T>C MANE Select | ENSP00000350283.3:p.Phe1704= | |
| ENST00000471181.7:c.5175T>C | ENSP00000418960.2:p.Phe1725= | |
| ENST00000644379.1:c.1499T>C | ||
| ENST00000352993.7:c.1686T>C | ENSP00000312236.5:p.Phe562= | |
| ENST00000357654.7:c.5112T>C | ENSP00000350283.3:p.Phe1704= | |
| ENST00000461221.5:c.*4895T>C | ENSP00000418548.1:n.*4895T>C | |
| ENST00000468300.5:c.1800T>C | ENSP00000417148.1:p.Phe600= | |
| ENST00000471181.6:c.5175T>C | ENSP00000418960.2:p.Phe1725= | |
| ENST00000478531.5:c.1800T>C | ENSP00000420412.1:p.Phe600= | |
| ENST00000484087.5:c.1425T>C | ENSP00000419481.1:p.Phe475= | |
| ENST00000491747.6:c.1800T>C | ENSP00000420705.2:p.Phe600= | |
| ENST00000493795.5:c.4971T>C | ENSP00000418775.1:p.Phe1657= | |
| ENST00000493919.5:c.1662T>C | ENSP00000418819.1:p.Phe554= | |
| ENST00000586385.5:c.42T>C | ENSP00000465818.1:p.Phe14= | |
| ENST00000591534.5:c.585T>C | ENSP00000467329.1:p.Phe195= | |
| ENST00000591849.5:c.-98-13724T>C | ENSP00000465347.1:n.-98-13724T>C | |
| NM_007294.3:c.5112T>C , LRG_292t1:c.5112T>C | NP_009225.1:p.Phe1704= | |
| NM_007297.3:c.4971T>C | NP_009228.2:p.Phe1657= | |
| NM_007298.3:c.1800T>C | NP_009229.2:p.Phe600= | |
| NM_007299.3:c.1800T>C | NP_009230.2:p.Phe600= | |
| NM_007300.3:c.5175T>C | NP_009231.2:p.Phe1725= | |
| NR_027676.1:n.5248T>C | ||
| NM_007294.4:c.5112T>C MANE Select | NP_009225.1:p.Phe1704= | |
| NM_007297.4:c.4971T>C | NP_009228.2:p.Phe1657= | |
| NM_007299.4:c.1800T>C | NP_009230.2:p.Phe600= | |
| NM_007300.4:c.5175T>C | NP_009231.2:p.Phe1725= | |
| NR_027676.2:n.5289T>C |