Linked Data
ClinVar Variation Id:
415251
dbSNP Id:
rs773456696
ExAC:
17:12896159 C / T
gnomAD v2:
17-12896159-C-T
gnomAD v3:
17-12992842-C-T
gnomAD v4:
17-12992842-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12992842C>T , CM000679.2:g.12992842C>T | GRCh38 |
| NC_000017.10:g.12896159C>T , CM000679.1:g.12896159C>T | GRCh37 |
| NC_000017.9:g.12836884C>T | NCBI36 |
| NG_015808.1:g.30223G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.2457G>A MANE Select | ENSP00000337445.4:p.Gln819= | |
| ENST00000338034.8:c.2457G>A | ENSP00000337445.4:p.Gln819= | |
| ENST00000395962.6:c.2400G>A | ENSP00000379291.1:p.Gln800= | |
| ENST00000426905.7:c.2337G>A | ENSP00000405223.3:p.Gln779= | |
| ENST00000465825.5:n.2344G>A | ||
| ENST00000480891.5:n.2286G>A | ||
| ENST00000484122.5:n.3287G>A | ||
| ENST00000487229.6:n.2003G>A | ||
| ENST00000584650.5:c.1856G>A | ||
| NM_001165962.1:c.2337G>A | NP_001159434.1:p.Gln779= | |
| NM_018127.6:c.2457G>A | NP_060597.4:p.Gln819= | |
| NM_173717.1:c.2454G>A | NP_776065.1:p.Gln818= | |
| XM_024450850.1:c.2616G>A | XP_024306618.1:p.Gln872= | |
| XM_024450851.1:c.2538G>A | XP_024306619.1:p.Gln846= | |
| XM_024450852.1:c.2535G>A | XP_024306620.1:p.Gln845= | |
| XM_024450853.1:c.2532G>A | XP_024306621.1:p.Gln844= | |
| XM_024450854.1:c.2496G>A | XP_024306622.1:p.Gln832= | |
| XM_024450855.1:c.2415G>A | XP_024306623.1:p.Gln805= | |
| XM_024450856.1:c.2334G>A | XP_024306624.1:p.Gln778= | |
| XM_024450857.1:c.2334G>A | XP_024306625.1:p.Gln778= | |
| XM_024450858.1:c.2253G>A | XP_024306626.1:p.Gln751= | |
| XM_024450859.1:c.2250G>A | XP_024306627.1:p.Gln750= | |
| XM_024450860.1:c.2175G>A | XP_024306628.1:p.Gln725= | |
| XM_024450861.1:c.2175G>A | XP_024306629.1:p.Gln725= | |
| XM_024450862.1:c.2172G>A | XP_024306630.1:p.Gln724= | |
| NM_018127.7:c.2457G>A MANE Select | NP_060597.4:p.Gln819= | |
| NM_001165962.2:c.2337G>A | NP_001159434.1:p.Gln779= | |
| NM_173717.2:c.2454G>A | NP_776065.1:p.Gln818= |