Linked Data
ClinVar Variation Id:
15072
ClinVar RCV Id:
RCV000016224
dbSNP Id:
rs34975911
gnomAD v2:
11-5255790-A-G
gnomAD v3:
11-5234560-A-G
gnomAD v4:
11-5234560-A-G
PubMed:
PMID:1515647
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5234560A>G , CM000673.2:g.5234560A>G | GRCh38 |
| NC_000011.9:g.5255790A>G , CM000673.1:g.5255790A>G | GRCh37 |
| NC_000011.8:g.5212366A>G | NCBI36 |
| NG_000007.3:g.63056T>C | |
| NG_063112.2:g.14098T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000643122.1:c.-28-99T>C | ENSP00000494708.1:n.-28-99T>C | |
| ENST00000380299.3:c.-127T>C | ENSP00000369654.3:n.-127T>C | |
| ENST00000429817.1:c.-97-30T>C | ENSP00000393810.1:n.-97-30T>C | |
| NM_000519.3:c.-127T>C | NP_000510.1:n.-127T>C |