Linked Data
ClinVar Variation Id:
322931
dbSNP Id:
rs886052888
gnomAD v2:
17-36046674-C-T
gnomAD v3:
17-37686671-C-T
gnomAD v4:
17-37686671-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.37686671C>T , CM000679.2:g.37686671C>T | GRCh38 |
| NC_000017.10:g.36046674C>T , CM000679.1:g.36046674C>T | GRCh37 |
| NC_000017.9:g.33120787C>T | NCBI36 |
| NG_013019.2:g.63436G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617811.5:c.*701G>A MANE Select | ENSP00000480291.1:n.*701G>A | |
| ENST00000617811.4:c.*701G>A | ENSP00000480291.1:n.*701G>A | |
| NM_000458.3:c.*701G>A | NP_000449.1:n.*701G>A | |
| NM_001165923.3:c.*701G>A | NP_001159395.1:n.*701G>A | |
| NM_001304286.1:c.*609G>A | NP_001291215.1:n.*609G>A | |
| XM_011525160.1:c.*609G>A | XP_011523462.1:n.*609G>A | |
| XM_011525161.1:c.*701G>A | XP_011523463.1:n.*701G>A | |
| XM_011525164.1:c.*609G>A | XP_011523466.1:n.*609G>A | |
| XR_002958135.1:n.1016C>T | ||
| NM_000458.4:c.*701G>A MANE Select | NP_000449.1:n.*701G>A | |
| NM_001165923.4:c.*701G>A | NP_001159395.1:n.*701G>A | |
| NM_001304286.2:c.*609G>A | NP_001291215.1:n.*609G>A |