Linked Data
ClinVar Variation Id:
240005
dbSNP Id:
rs144092307
ExAC:
17:63532575 C / T
gnomAD v2:
17-63532575-C-T
gnomAD v3:
17-65536457-C-T
gnomAD v4:
17-65536457-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.65536457C>T , CM000679.2:g.65536457C>T | GRCh38 |
| NC_000017.10:g.63532575C>T , CM000679.1:g.63532575C>T | GRCh37 |
| NC_000017.9:g.60963037C>T | NCBI36 |
| NG_012142.1:g.30166G>A , LRG_296:g.30166G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307078.10:c.2004G>A MANE Select | ENSP00000302625.5:p.Gly668= | |
| ENST00000307078.9:c.2004G>A | ENSP00000302625.5:p.Gly668= | |
| ENST00000375702.5:c.1809G>A | ENSP00000364854.5:p.Gly603= | |
| ENST00000578251.1:n.226G>A | ||
| ENST00000611991.1:c.397-7757G>A | ENSP00000481191.1:n.397-7757G>A | |
| ENST00000618960.4:c.1809G>A | ENSP00000478916.1:p.Gly603= | |
| NM_004655.3:c.2004G>A , LRG_296t1:c.2004G>A | NP_004646.3:p.Gly668= | |
| XM_011525319.1:c.2004G>A | XP_011523621.1:p.Gly668= | |
| XM_011525320.1:c.2004G>A | XP_011523622.1:p.Gly668= | |
| XM_011525321.1:c.2004G>A | XP_011523623.1:p.Gly668= | |
| XM_011525322.1:c.1809G>A | XP_011523624.1:p.Gly603= | |
| NM_001363813.1:c.1809G>A | NP_001350742.1:p.Gly603= | |
| NM_004655.4:c.2004G>A MANE Select | NP_004646.3:p.Gly668= | |
| XM_011525319.2:c.2004G>A | XP_011523621.1:p.Gly668= | |
| XM_011525321.2:c.2004G>A | XP_011523623.1:p.Gly668= | |
| XM_017025192.1:c.2004G>A | XP_016880681.1:p.Gly668= | |
| XM_017025193.1:c.1809G>A | XP_016880682.1:p.Gly603= |