Linked Data
ClinVar Variation Id:
2837389
ClinVar RCV Id:
RCV003692532
gnomAD v4:
12-57765201-C-T
MyVariant Identifiers:
chr12:g.58158984C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57765201C>T , CM000674.2:g.57765201C>T | GRCh38 |
| NC_000012.11:g.58158984C>T , CM000674.1:g.58158984C>T | GRCh37 |
| NC_000012.10:g.56445251C>T | NCBI36 |
| NG_007076.1:g.6993G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.512G>A | ||
| ENST00000713544.1:c.681G>A | ENSP00000518840.1:p.Ala227= | |
| ENST00000713545.1:c.658G>A | ENSP00000518841.1:p.Gly220Ser | |
| ENST00000228606.9:c.600G>A MANE Select | ENSP00000228606.4:p.Ala200= | |
| ENST00000228606.8:c.600G>A | ENSP00000228606.4:p.Ala200= | |
| ENST00000546567.5:c.-106G>A | ENSP00000449472.1:n.-106G>A | |
| ENST00000546609.1:c.512G>A | ||
| ENST00000547344.5:n.739G>A | ||
| ENST00000547451.1:n.400G>A | ||
| NM_000785.3:c.600G>A | NP_000776.1:p.Ala200= | |
| NM_000785.4:c.600G>A MANE Select | NP_000776.1:p.Ala200= |