Linked Data
ClinVar Variation Id:
193102
dbSNP Id:
rs144425830
ExAC:
17:36104650 C / A
gnomAD v2:
17-36104650-C-A
gnomAD v3:
17-37744659-C-A
gnomAD v4:
17-37744659-C-A
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.37744659C>A , CM000679.2:g.37744659C>A | GRCh38 |
| NC_000017.10:g.36104650C>A , CM000679.1:g.36104650C>A | GRCh37 |
| NC_000017.9:g.33178763C>A | NCBI36 |
| NG_013019.2:g.5448G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617811.5:c.226G>T MANE Select | ENSP00000480291.1:p.Gly76Cys | |
| ENST00000613727.4:c.226G>T | ENSP00000477524.1:p.Gly76Cys | |
| ENST00000614313.4:c.226G>T | ENSP00000482529.1:p.Gly76Cys | |
| ENST00000617272.4:c.226G>T | ENSP00000478682.1:p.Gly76Cys | |
| ENST00000617811.4:c.226G>T | ENSP00000480291.1:p.Gly76Cys | |
| ENST00000620125.1:c.226G>T | ENSP00000481245.1:p.Gly76Cys | |
| ENST00000621123.4:c.226G>T | ENSP00000482711.1:p.Gly76Cys | |
| NM_000458.3:c.226G>T | NP_000449.1:p.Gly76Cys | |
| NM_001165923.3:c.226G>T | NP_001159395.1:p.Gly76Cys | |
| NM_001304286.1:c.226G>T | NP_001291215.1:p.Gly76Cys | |
| XM_011525160.1:c.226G>T | XP_011523462.1:p.Gly76Cys | |
| XM_011525161.1:c.226G>T | XP_011523463.1:p.Gly76Cys | |
| XM_011525162.1:c.226G>T | XP_011523464.1:p.Gly76Cys | |
| XM_011525163.1:c.226G>T | XP_011523465.1:p.Gly76Cys | |
| XM_011525164.1:c.226G>T | XP_011523466.1:p.Gly76Cys | |
| XM_011525162.2:c.226G>T | XP_011523464.1:p.Gly76Cys | |
| XM_011525163.2:c.226G>T | XP_011523465.1:p.Gly76Cys | |
| NM_000458.4:c.226G>T MANE Select | NP_000449.1:p.Gly76Cys | |
| NM_001165923.4:c.226G>T | NP_001159395.1:p.Gly76Cys | |
| NM_001304286.2:c.226G>T | NP_001291215.1:p.Gly76Cys |