Linked Data
ClinVar Variation Id:
2184290
ClinVar RCV Id:
RCV002615756
dbSNP Id:
rs1270670924
gnomAD v2:
6-97345616-T-A
gnomAD v4:
6-96897740-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.96897740T>A , CM000668.2:g.96897740T>A | GRCh38 |
| NC_000006.11:g.97345616T>A , CM000668.1:g.97345616T>A | GRCh37 |
| NC_000006.10:g.97452337T>A | NCBI36 |
| NG_013379.1:g.5152A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316149.8:c.62A>T MANE Select | ENSP00000358272.4:p.Glu21Val | |
| ENST00000316149.7:c.62A>T | ENSP00000358272.4:p.Glu21Val | |
| ENST00000489477.1:n.135A>T | ||
| NM_014165.3:c.62A>T | NP_054884.1:p.Glu21Val | |
| NM_014165.4:c.62A>T MANE Select | NP_054884.1:p.Glu21Val |