Linked Data
ClinVar Variation Id:
2957347
ClinVar RCV Id:
RCV003819034
dbSNP Id:
rs776132505
ExAC:
2:29293812 C / T
gnomAD v2:
2-29293812-C-T
gnomAD v3:
2-29070946-C-T
gnomAD v4:
2-29070946-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29070946C>T , CM000664.2:g.29070946C>T | GRCh38 |
| NC_000002.11:g.29293812C>T , CM000664.1:g.29293812C>T | GRCh37 |
| NC_000002.10:g.29147316C>T | NCBI36 |
| NG_021427.1:g.8316G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3316G>A MANE Select | ENSP00000332809.4:p.Glu1106Lys | |
| ENST00000331664.5:c.3316G>A | ENSP00000332809.4:p.Glu1106Lys | |
| NM_001029883.2:c.3316G>A | NP_001025054.1:p.Glu1106Lys | |
| XM_011532826.1:c.3316G>A | XP_011531128.1:p.Glu1106Lys | |
| XR_939901.1:n.185+1779C>T | ||
| XR_939902.1:n.173+1791C>T | ||
| NM_001029883.3:c.3316G>A MANE Select | NP_001025054.1:p.Glu1106Lys |