Linked Data
ClinVar Variation Id:
778585
ClinVar RCV Id:
RCV000959260
dbSNP Id:
rs138649790
ExAC:
12:22199315 G / A
gnomAD v2:
12-22199315-G-A
gnomAD v3:
12-22046381-G-A
gnomAD v4:
12-22046381-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.22046381G>A , CM000674.2:g.22046381G>A | GRCh38 |
| NC_000012.11:g.22199315G>A , CM000674.1:g.22199315G>A | GRCh37 |
| NC_000012.10:g.22090582G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229329.7:c.78G>A MANE Select | ENSP00000229329.2:p.Lys26= | |
| ENST00000229329.6:c.78G>A | ENSP00000229329.2:p.Lys26= | |
| ENST00000534981.5:c.78G>A | ENSP00000446239.1:p.Lys26= | |
| ENST00000535610.5:c.78G>A | ENSP00000439404.1:p.Lys26= | |
| NM_018686.4:c.78G>A | NP_061156.1:p.Lys26= | |
| XR_931313.1:n.208G>A | ||
| NM_018686.5:c.78G>A | NP_061156.1:p.Lys26= | |
| NR_135117.1:n.208G>A | ||
| NM_018686.6:c.78G>A MANE Select | NP_061156.1:p.Lys26= | |
| NR_135117.2:n.164G>A |