Linked Data
ClinVar Variation Id:
13661
ClinVar RCV Id:
RCV000014646
dbSNP Id:
rs1130335
ExAC:
2:233243586 C / T
gnomAD v2:
2-233243586-C-T
gnomAD v3:
2-232378876-C-T
gnomAD v4:
2-232378876-C-T
PubMed:
PMID:3461452
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232378876C>T , CM000664.2:g.232378876C>T | GRCh38 |
| NC_000002.11:g.233243586C>T , CM000664.1:g.233243586C>T | GRCh37 |
| NC_000002.10:g.232951830C>T | NCBI36 |
| NG_012189.1:g.5239C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392027.3:c.74C>T MANE Select | ENSP00000375881.2:p.Pro25Leu | |
| ENST00000392027.2:c.74C>T | ENSP00000375881.2:p.Pro25Leu | |
| ENST00000474529.1:n.153C>T | ||
| NM_001632.4:c.74C>T | NP_001623.3:p.Pro25Leu | |
| NM_001632.5:c.74C>T MANE Select | NP_001623.3:p.Pro25Leu |