Linked Data
ClinVar Variation Id:
4250
ClinVar RCV Id:
RCV000004472
dbSNP Id:
rs121908104
ExAC:
18:47500917 C / T
gnomAD v2:
18-47500917-C-T
gnomAD v3:
18-49974547-C-T
gnomAD v4:
18-49974547-C-T
PubMed:
PMID:18724368
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49974547C>T , CM000680.2:g.49974547C>T | GRCh38 |
| NC_000018.9:g.47500917C>T , CM000680.1:g.47500917C>T | GRCh37 |
| NC_000018.8:g.45754915C>T | NCBI36 |
| NG_012925.1:g.225535G>A | |
| NG_012925.2:g.225535G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697219.1:c.922G>A | ||
| ENST00000285039.12:c.1125G>A MANE Select | ENSP00000285039.6:p.Trp375Ter | |
| ENST00000285039.11:c.1125G>A | ENSP00000285039.6:p.Trp375Ter | |
| ENST00000616031.4:c.1122G>A | ENSP00000479038.1:p.Trp374Ter | |
| NM_001080467.2:c.1125G>A | NP_001073936.1:p.Trp375Ter | |
| NM_001080467.3:c.1125G>A MANE Select | NP_001073936.1:p.Trp375Ter |