Linked Data
dbSNP Id:
rs752630201
ExAC:
17:12896185 T / C
gnomAD v2:
17-12896185-T-C
gnomAD v4:
17-12992868-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12992868T>C , CM000679.2:g.12992868T>C | GRCh38 |
| NC_000017.10:g.12896185T>C , CM000679.1:g.12896185T>C | GRCh37 |
| NC_000017.9:g.12836910T>C | NCBI36 |
| NG_015808.1:g.30197A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.2431A>G MANE Select | ENSP00000337445.4:p.Lys811Glu | |
| ENST00000338034.8:c.2431A>G | ENSP00000337445.4:p.Lys811Glu | |
| ENST00000395962.6:c.2374A>G | ENSP00000379291.1:p.Lys792Glu | |
| ENST00000426905.7:c.2311A>G | ENSP00000405223.3:p.Lys771Glu | |
| ENST00000465825.5:n.2318A>G | ||
| ENST00000480891.5:n.2260A>G | ||
| ENST00000484122.5:n.3261A>G | ||
| ENST00000487229.6:n.1977A>G | ||
| ENST00000584650.5:c.1830A>G | ||
| NM_001165962.1:c.2311A>G | NP_001159434.1:p.Lys771Glu | |
| NM_018127.6:c.2431A>G | NP_060597.4:p.Lys811Glu | |
| NM_173717.1:c.2428A>G | NP_776065.1:p.Lys810Glu | |
| XM_024450850.1:c.2590A>G | XP_024306618.1:p.Lys864Glu | |
| XM_024450851.1:c.2512A>G | XP_024306619.1:p.Lys838Glu | |
| XM_024450852.1:c.2509A>G | XP_024306620.1:p.Lys837Glu | |
| XM_024450853.1:c.2506A>G | XP_024306621.1:p.Lys836Glu | |
| XM_024450854.1:c.2470A>G | XP_024306622.1:p.Lys824Glu | |
| XM_024450855.1:c.2389A>G | XP_024306623.1:p.Lys797Glu | |
| XM_024450856.1:c.2308A>G | XP_024306624.1:p.Lys770Glu | |
| XM_024450857.1:c.2308A>G | XP_024306625.1:p.Lys770Glu | |
| XM_024450858.1:c.2227A>G | XP_024306626.1:p.Lys743Glu | |
| XM_024450859.1:c.2224A>G | XP_024306627.1:p.Lys742Glu | |
| XM_024450860.1:c.2149A>G | XP_024306628.1:p.Lys717Glu | |
| XM_024450861.1:c.2149A>G | XP_024306629.1:p.Lys717Glu | |
| XM_024450862.1:c.2146A>G | XP_024306630.1:p.Lys716Glu | |
| NM_018127.7:c.2431A>G MANE Select | NP_060597.4:p.Lys811Glu | |
| NM_001165962.2:c.2311A>G | NP_001159434.1:p.Lys771Glu | |
| NM_173717.2:c.2428A>G | NP_776065.1:p.Lys810Glu |