Linked Data
ClinVar Variation Id:
17769
dbSNP Id:
rs121912749
ExAC:
17:42337869 C / T
gnomAD v2:
17-42337869-C-T
gnomAD v3:
17-44260501-C-T
gnomAD v4:
17-44260501-C-T
PubMed:
PMID:9734643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44260501C>T , CM000679.2:g.44260501C>T | GRCh38 |
| NC_000017.10:g.42337869C>T , CM000679.1:g.42337869C>T | GRCh37 |
| NC_000017.9:g.39693395C>T | NCBI36 |
| NG_007498.1:g.12634G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262418.12:c.388G>A MANE Select | ENSP00000262418.6:p.Gly130Arg | |
| ENST00000262418.10:c.388G>A | ENSP00000262418.6:p.Gly130Arg | |
| ENST00000399246.3:c.388G>A | ENSP00000382190.3:p.Gly130Arg | |
| ENST00000471005.5:n.322G>A | ||
| ENST00000497360.5:n.527G>A | ||
| NM_000342.3:c.388G>A | NP_000333.1:p.Gly130Arg | |
| XM_005257593.3:c.193G>A | XP_005257650.1:p.Gly65Arg | |
| XM_011525129.1:c.388G>A | XP_011523431.1:p.Gly130Arg | |
| XM_011525130.1:c.388G>A | XP_011523432.1:p.Gly130Arg | |
| XM_011525131.1:c.388G>A | XP_011523433.1:p.Gly130Arg | |
| XM_005257593.5:c.193G>A | XP_005257650.1:p.Gly65Arg | |
| XM_011525129.2:c.388G>A | XP_011523431.1:p.Gly130Arg | |
| NM_000342.4:c.388G>A MANE Select | NP_000333.1:p.Gly130Arg |