Linked Data
ClinVar Variation Id:
516751
dbSNP Id:
rs201700166
ExAC:
17:12896207 C / T
gnomAD v2:
17-12896207-C-T
gnomAD v3:
17-12992890-C-T
gnomAD v4:
17-12992890-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12992890C>T , CM000679.2:g.12992890C>T | GRCh38 |
| NC_000017.10:g.12896207C>T , CM000679.1:g.12896207C>T | GRCh37 |
| NC_000017.9:g.12836932C>T | NCBI36 |
| NG_015808.1:g.30175G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.2409G>A MANE Select | ENSP00000337445.4:p.Leu803= | |
| ENST00000338034.8:c.2409G>A | ENSP00000337445.4:p.Leu803= | |
| ENST00000395962.6:c.2352G>A | ENSP00000379291.1:p.Leu784= | |
| ENST00000426905.7:c.2289G>A | ENSP00000405223.3:p.Leu763= | |
| ENST00000465825.5:n.2296G>A | ||
| ENST00000480891.5:n.2238G>A | ||
| ENST00000484122.5:n.3239G>A | ||
| ENST00000487229.6:n.1955G>A | ||
| ENST00000584650.5:c.1808G>A | ||
| NM_001165962.1:c.2289G>A | NP_001159434.1:p.Leu763= | |
| NM_018127.6:c.2409G>A | NP_060597.4:p.Leu803= | |
| NM_173717.1:c.2406G>A | NP_776065.1:p.Leu802= | |
| XM_024450850.1:c.2568G>A | XP_024306618.1:p.Leu856= | |
| XM_024450851.1:c.2490G>A | XP_024306619.1:p.Leu830= | |
| XM_024450852.1:c.2487G>A | XP_024306620.1:p.Leu829= | |
| XM_024450853.1:c.2484G>A | XP_024306621.1:p.Leu828= | |
| XM_024450854.1:c.2448G>A | XP_024306622.1:p.Leu816= | |
| XM_024450855.1:c.2367G>A | XP_024306623.1:p.Leu789= | |
| XM_024450856.1:c.2286G>A | XP_024306624.1:p.Leu762= | |
| XM_024450857.1:c.2286G>A | XP_024306625.1:p.Leu762= | |
| XM_024450858.1:c.2205G>A | XP_024306626.1:p.Leu735= | |
| XM_024450859.1:c.2202G>A | XP_024306627.1:p.Leu734= | |
| XM_024450860.1:c.2127G>A | XP_024306628.1:p.Leu709= | |
| XM_024450861.1:c.2127G>A | XP_024306629.1:p.Leu709= | |
| XM_024450862.1:c.2124G>A | XP_024306630.1:p.Leu708= | |
| NM_018127.7:c.2409G>A MANE Select | NP_060597.4:p.Leu803= | |
| NM_001165962.2:c.2289G>A | NP_001159434.1:p.Leu763= | |
| NM_173717.2:c.2406G>A | NP_776065.1:p.Leu802= |