Linked Data
ClinVar Variation Id:
307764
ClinVar RCV Id:
RCV000361758
dbSNP Id:
rs150038879
gnomAD v2:
12-15034734-A-G
gnomAD v3:
12-14881800-A-G
gnomAD v4:
12-14881800-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14881800A>G , CM000674.2:g.14881800A>G | GRCh38 |
| NC_000012.11:g.15034734A>G , CM000674.1:g.15034734A>G | GRCh37 |
| NC_000012.10:g.14926001A>G | NCBI36 |
| NG_023331.1:g.9120T>C | |
| NG_023331.2:g.9120T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539261.6:c.*339T>C (MGP) MANE Select | ENSP00000445907.1:n.*339T>C | |
| ENST00000648334.1:n.126-22207A>G (C12orf60) | ||
| ENST00000527783.1:n.76-17369A>G (C12orf60) | ||
| ENST00000533472.1:n.87-22207A>G (C12orf60) | ||
| ENST00000539261.5:c.*339T>C (MGP) | ENSP00000445907.1:n.*339T>C | |
| NM_000900.3:c.*339T>C (MGP) | NP_000891.2:n.*339T>C | |
| NM_001190839.1:c.*339T>C (MGP) | NP_001177768.1:n.*339T>C | |
| NM_000900.4:c.*339T>C (MGP) | NP_000891.2:n.*339T>C | |
| NM_001190839.2:c.*339T>C (MGP) | NP_001177768.1:n.*339T>C | |
| NM_000900.5:c.*339T>C (MGP) MANE Select | NP_000891.2:n.*339T>C | |
| NM_001190839.3:c.*339T>C (MGP) | NP_001177768.1:n.*339T>C |