Linked Data
dbSNP Id:
rs748902752
ExAC:
17:12896199 C / T
gnomAD v2:
17-12896199-C-T
gnomAD v4:
17-12992882-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12992882C>T , CM000679.2:g.12992882C>T | GRCh38 |
| NC_000017.10:g.12896199C>T , CM000679.1:g.12896199C>T | GRCh37 |
| NC_000017.9:g.12836924C>T | NCBI36 |
| NG_015808.1:g.30183G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.2417G>A MANE Select | ENSP00000337445.4:p.Gly806Glu | |
| ENST00000338034.8:c.2417G>A | ENSP00000337445.4:p.Gly806Glu | |
| ENST00000395962.6:c.2360G>A | ENSP00000379291.1:p.Gly787Glu | |
| ENST00000426905.7:c.2297G>A | ENSP00000405223.3:p.Gly766Glu | |
| ENST00000465825.5:n.2304G>A | ||
| ENST00000480891.5:n.2246G>A | ||
| ENST00000484122.5:n.3247G>A | ||
| ENST00000487229.6:n.1963G>A | ||
| ENST00000584650.5:c.1816G>A | ||
| NM_001165962.1:c.2297G>A | NP_001159434.1:p.Gly766Glu | |
| NM_018127.6:c.2417G>A | NP_060597.4:p.Gly806Glu | |
| NM_173717.1:c.2414G>A | NP_776065.1:p.Gly805Glu | |
| XM_024450850.1:c.2576G>A | XP_024306618.1:p.Gly859Glu | |
| XM_024450851.1:c.2498G>A | XP_024306619.1:p.Gly833Glu | |
| XM_024450852.1:c.2495G>A | XP_024306620.1:p.Gly832Glu | |
| XM_024450853.1:c.2492G>A | XP_024306621.1:p.Gly831Glu | |
| XM_024450854.1:c.2456G>A | XP_024306622.1:p.Gly819Glu | |
| XM_024450855.1:c.2375G>A | XP_024306623.1:p.Gly792Glu | |
| XM_024450856.1:c.2294G>A | XP_024306624.1:p.Gly765Glu | |
| XM_024450857.1:c.2294G>A | XP_024306625.1:p.Gly765Glu | |
| XM_024450858.1:c.2213G>A | XP_024306626.1:p.Gly738Glu | |
| XM_024450859.1:c.2210G>A | XP_024306627.1:p.Gly737Glu | |
| XM_024450860.1:c.2135G>A | XP_024306628.1:p.Gly712Glu | |
| XM_024450861.1:c.2135G>A | XP_024306629.1:p.Gly712Glu | |
| XM_024450862.1:c.2132G>A | XP_024306630.1:p.Gly711Glu | |
| NM_018127.7:c.2417G>A MANE Select | NP_060597.4:p.Gly806Glu | |
| NM_001165962.2:c.2297G>A | NP_001159434.1:p.Gly766Glu | |
| NM_173717.2:c.2414G>A | NP_776065.1:p.Gly805Glu |