Linked Data
ClinVar Variation Id:
1014549
ClinVar RCV Id:
RCV001313298
dbSNP Id:
rs1463513823
gnomAD v3:
12-4911739-G-A
gnomAD v4:
12-4911739-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4911739G>A , CM000674.2:g.4911739G>A | GRCh38 |
| NC_000012.11:g.5020905G>A , CM000674.1:g.5020905G>A | GRCh37 |
| NC_000012.10:g.4891166G>A | NCBI36 |
| NG_011815.1:g.6833G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.361G>A MANE Select | ENSP00000371985.3:p.Glu121Lys | |
| ENST00000543874.3:n.105+1267G>A | ||
| ENST00000639306.1:c.199G>A | ENSP00000492506.1:p.Glu67Lys | |
| ENST00000382545.3:c.361G>A | ENSP00000371985.3:p.Glu121Lys | |
| ENST00000541095.1:n.105+1267G>A | ||
| ENST00000543874.2:n.96+1267G>A | ||
| NM_000217.2:c.361G>A | NP_000208.2:p.Glu121Lys | |
| NM_000217.3:c.361G>A MANE Select | NP_000208.2:p.Glu121Lys |