Linked Data
dbSNP Id:
rs755843861
ExAC:
17:41197867 G / A
gnomAD v2:
17-41197867-G-A
gnomAD v4:
17-43045850-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43045850G>A , CM000679.2:g.43045850G>A | GRCh38 |
| NC_000017.10:g.41197867G>A , CM000679.1:g.41197867G>A | GRCh37 |
| NC_000017.9:g.38451393G>A | NCBI36 |
| NG_005905.2:g.172134C>T , LRG_292:g.172134C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5465-48C>T | ENSP00000417241.2:n.5465-48C>T | |
| ENST00000470026.6:c.5468-48C>T | ENSP00000419274.2:n.5468-48C>T | |
| ENST00000473961.6:c.5342-48C>T | ENSP00000420201.2:n.5342-48C>T | |
| ENST00000476777.6:c.5462-48C>T | ENSP00000417554.2:n.5462-48C>T | |
| ENST00000477152.6:c.5390-48C>T | ENSP00000419988.2:n.5390-48C>T | |
| ENST00000478531.6:c.2156-48C>T | ENSP00000420412.2:n.2156-48C>T | |
| ENST00000489037.2:c.5390-48C>T | ENSP00000420781.2:n.5390-48C>T | |
| ENST00000493919.6:c.2018-48C>T | ENSP00000418819.2:n.2018-48C>T | |
| ENST00000494123.6:c.5468-48C>T | ENSP00000419103.2:n.5468-48C>T | |
| ENST00000497488.2:c.4580-48C>T | ENSP00000418986.2:n.4580-48C>T | |
| ENST00000618469.2:c.5468-48C>T | ENSP00000478114.2:n.5468-48C>T | |
| ENST00000634433.2:c.5345-48C>T | ENSP00000489431.2:n.5345-48C>T | |
| ENST00000644379.2:c.5534-48C>T | ENSP00000496570.2:n.5534-48C>T | |
| ENST00000644555.2:c.2018-48C>T | ENSP00000494614.2:n.2018-48C>T | |
| ENST00000652672.2:c.5327-48C>T | ENSP00000498906.2:n.5327-48C>T | |
| ENST00000484087.6:c.2030-48C>T | ENSP00000419481.2:n.2030-48C>T | |
| ENST00000700081.1:n.1351-48C>T | ||
| ENST00000700082.1:n.832-48C>T | ||
| ENST00000357654.9:c.5468-48C>T MANE Select | ENSP00000350283.3:n.5468-48C>T | |
| ENST00000471181.7:c.5531-48C>T | ENSP00000418960.2:n.5531-48C>T | |
| ENST00000644379.1:c.1855-48C>T | ||
| ENST00000352993.7:c.2042-48C>T | ENSP00000312236.5:n.2042-48C>T | |
| ENST00000357654.7:c.5468-48C>T | ENSP00000350283.3:n.5468-48C>T | |
| ENST00000461221.5:c.*5251-48C>T | ENSP00000418548.1:n.*5251-48C>T | |
| ENST00000468300.5:c.2082-48C>T | ENSP00000417148.1:n.2082-48C>T | |
| ENST00000471181.6:c.5531-48C>T | ENSP00000418960.2:n.5531-48C>T | |
| ENST00000491747.6:c.2156-48C>T | ENSP00000420705.2:n.2156-48C>T | |
| ENST00000493795.5:c.5327-48C>T | ENSP00000418775.1:n.5327-48C>T | |
| ENST00000586385.5:c.398-48C>T | ENSP00000465818.1:n.398-48C>T | |
| ENST00000591534.5:c.941-48C>T | ENSP00000467329.1:n.941-48C>T | |
| ENST00000591849.5:c.167-48C>T | ENSP00000465347.1:n.167-48C>T | |
| NM_007294.3:c.5468-48C>T , LRG_292t1:c.5468-48C>T | NP_009225.1:n.5468-48C>T | |
| NM_007297.3:c.5327-48C>T | NP_009228.2:n.5327-48C>T | |
| NM_007298.3:c.2156-48C>T | NP_009229.2:n.2156-48C>T | |
| NM_007299.3:c.2082-48C>T | NP_009230.2:n.2082-48C>T | |
| NM_007300.3:c.5531-48C>T | NP_009231.2:n.5531-48C>T | |
| NR_027676.1:n.5604-48C>T | ||
| NM_007294.4:c.5468-48C>T MANE Select | NP_009225.1:n.5468-48C>T | |
| NM_007297.4:c.5327-48C>T | NP_009228.2:n.5327-48C>T | |
| NM_007299.4:c.2082-48C>T | NP_009230.2:n.2082-48C>T | |
| NM_007300.4:c.5531-48C>T | NP_009231.2:n.5531-48C>T | |
| NR_027676.2:n.5645-48C>T |