Linked Data
ClinVar Variation Id:
307761
ClinVar RCV Id:
RCV000337252
dbSNP Id:
rs184916517
gnomAD v2:
12-15034597-A-G
gnomAD v3:
12-14881663-A-G
gnomAD v4:
12-14881663-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14881663A>G , CM000674.2:g.14881663A>G | GRCh38 |
| NC_000012.11:g.15034597A>G , CM000674.1:g.15034597A>G | GRCh37 |
| NC_000012.10:g.14925864A>G | NCBI36 |
| NG_023331.1:g.9257T>C | |
| NG_023331.2:g.9257T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539261.6:c.*476T>C (MGP) MANE Select | ENSP00000445907.1:n.*476T>C | |
| ENST00000648334.1:n.126-22344A>G (C12orf60) | ||
| ENST00000527783.1:n.76-17506A>G (C12orf60) | ||
| ENST00000533472.1:n.87-22344A>G (C12orf60) | ||
| ENST00000539261.5:c.*476T>C (MGP) | ENSP00000445907.1:n.*476T>C | |
| NM_000900.3:c.*476T>C (MGP) | NP_000891.2:n.*476T>C | |
| NM_001190839.1:c.*476T>C (MGP) | NP_001177768.1:n.*476T>C | |
| NM_000900.4:c.*476T>C (MGP) | NP_000891.2:n.*476T>C | |
| NM_001190839.2:c.*476T>C (MGP) | NP_001177768.1:n.*476T>C | |
| NM_000900.5:c.*476T>C (MGP) MANE Select | NP_000891.2:n.*476T>C | |
| NM_001190839.3:c.*476T>C (MGP) | NP_001177768.1:n.*476T>C |