Linked Data
ClinVar Variation Id:
307776
dbSNP Id:
rs1800801
gnomAD v2:
12-15038788-C-T
gnomAD v3:
12-14885854-C-T
gnomAD v4:
12-14885854-C-T
PubMed:
PMID:11073842
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14885854C>T , CM000674.2:g.14885854C>T | GRCh38 |
| NC_000012.11:g.15038788C>T , CM000674.1:g.15038788C>T | GRCh37 |
| NC_000012.10:g.14930055C>T | NCBI36 |
| NG_023331.1:g.5066G>A | |
| NG_023331.2:g.5066G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000539261.6:c.-63G>A (MGP) MANE Select | ENSP00000445907.1:n.-63G>A | |
| ENST00000648334.1:n.126-18153C>T (C12orf60) | ||
| ENST00000228938.5:c.-63G>A (MGP) | ENSP00000228938.5:n.-63G>A | |
| ENST00000507170.2:n.1G>A (MGP) | ||
| ENST00000527783.1:n.76-13315C>T (C12orf60) | ||
| ENST00000533472.1:n.87-18153C>T (C12orf60) | ||
| ENST00000539261.5:c.-63G>A (MGP) | ENSP00000445907.1:n.-63G>A | |
| ENST00000543822.1:n.91+48C>T (C12orf60) | ||
| NM_000900.3:c.-63G>A (MGP) | NP_000891.2:n.-63G>A | |
| NM_001190839.1:c.-63G>A (MGP) | NP_001177768.1:n.-63G>A | |
| NM_000900.4:c.-63G>A (MGP) | NP_000891.2:n.-63G>A | |
| NM_001190839.2:c.-63G>A (MGP) | NP_001177768.1:n.-63G>A | |
| NM_000900.5:c.-63G>A (MGP) MANE Select | NP_000891.2:n.-63G>A | |
| NM_001190839.3:c.-63G>A (MGP) | NP_001177768.1:n.-63G>A |