Linked Data
ClinVar Variation Id:
2161970
ClinVar RCV Id:
RCV003078840
dbSNP Id:
rs1165224986
gnomAD v2:
17-12896204-C-A
gnomAD v4:
17-12992887-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12992887C>A , CM000679.2:g.12992887C>A | GRCh38 |
| NC_000017.10:g.12896204C>A , CM000679.1:g.12896204C>A | GRCh37 |
| NC_000017.9:g.12836929C>A | NCBI36 |
| NG_015808.1:g.30178G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.2412G>T MANE Select | ENSP00000337445.4:p.Glu804Asp | |
| ENST00000338034.8:c.2412G>T | ENSP00000337445.4:p.Glu804Asp | |
| ENST00000395962.6:c.2355G>T | ENSP00000379291.1:p.Glu785Asp | |
| ENST00000426905.7:c.2292G>T | ENSP00000405223.3:p.Glu764Asp | |
| ENST00000465825.5:n.2299G>T | ||
| ENST00000480891.5:n.2241G>T | ||
| ENST00000484122.5:n.3242G>T | ||
| ENST00000487229.6:n.1958G>T | ||
| ENST00000584650.5:c.1811G>T | ||
| NM_001165962.1:c.2292G>T | NP_001159434.1:p.Glu764Asp | |
| NM_018127.6:c.2412G>T | NP_060597.4:p.Glu804Asp | |
| NM_173717.1:c.2409G>T | NP_776065.1:p.Glu803Asp | |
| XM_024450850.1:c.2571G>T | XP_024306618.1:p.Glu857Asp | |
| XM_024450851.1:c.2493G>T | XP_024306619.1:p.Glu831Asp | |
| XM_024450852.1:c.2490G>T | XP_024306620.1:p.Glu830Asp | |
| XM_024450853.1:c.2487G>T | XP_024306621.1:p.Glu829Asp | |
| XM_024450854.1:c.2451G>T | XP_024306622.1:p.Glu817Asp | |
| XM_024450855.1:c.2370G>T | XP_024306623.1:p.Glu790Asp | |
| XM_024450856.1:c.2289G>T | XP_024306624.1:p.Glu763Asp | |
| XM_024450857.1:c.2289G>T | XP_024306625.1:p.Glu763Asp | |
| XM_024450858.1:c.2208G>T | XP_024306626.1:p.Glu736Asp | |
| XM_024450859.1:c.2205G>T | XP_024306627.1:p.Glu735Asp | |
| XM_024450860.1:c.2130G>T | XP_024306628.1:p.Glu710Asp | |
| XM_024450861.1:c.2130G>T | XP_024306629.1:p.Glu710Asp | |
| XM_024450862.1:c.2127G>T | XP_024306630.1:p.Glu709Asp | |
| NM_018127.7:c.2412G>T MANE Select | NP_060597.4:p.Glu804Asp | |
| NM_001165962.2:c.2292G>T | NP_001159434.1:p.Glu764Asp | |
| NM_173717.2:c.2409G>T | NP_776065.1:p.Glu803Asp |