Linked Data
ClinVar Variation Id:
14344
dbSNP Id:
rs111320759
gnomAD v4:
12-14884212-C-T
PubMed:
PMID:15810001
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14884212C>T , CM000674.2:g.14884212C>T | GRCh38 |
| NC_000012.11:g.15037146C>T , CM000674.1:g.15037146C>T | GRCh37 |
| NC_000012.10:g.14928413C>T | NCBI36 |
| NG_023331.1:g.6708G>A | |
| NG_023331.2:g.6708G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000539261.6:c.94+1G>A (MGP) MANE Select | ENSP00000445907.1:n.94+1G>A | |
| ENST00000648334.1:n.126-19795C>T (C12orf60) | ||
| ENST00000228938.5:c.169+1G>A (MGP) | ENSP00000228938.5:n.169+1G>A | |
| ENST00000507170.2:n.158G>A (MGP) | ||
| ENST00000527783.1:n.76-14957C>T (C12orf60) | ||
| ENST00000533472.1:n.87-19795C>T (C12orf60) | ||
| ENST00000539261.5:c.94+1G>A (MGP) | ENSP00000445907.1:n.94+1G>A | |
| ENST00000545199.5:c.33+1G>A (MGP) | ||
| NM_000900.3:c.94+1G>A (MGP) | NP_000891.2:n.94+1G>A | |
| NM_001190839.1:c.169+1G>A (MGP) | NP_001177768.1:n.169+1G>A | |
| NM_000900.4:c.94+1G>A (MGP) | NP_000891.2:n.94+1G>A | |
| NM_001190839.2:c.169+1G>A (MGP) | NP_001177768.1:n.169+1G>A | |
| NM_000900.5:c.94+1G>A (MGP) MANE Select | NP_000891.2:n.94+1G>A | |
| NM_001190839.3:c.169+1G>A (MGP) | NP_001177768.1:n.169+1G>A |