Linked Data
ClinVar Variation Id:
8066
ClinVar RCV Id:
RCV000008532
dbSNP Id:
rs121909253
gnomAD v4:
18-59359243-A-G
PubMed:
PMID:18391077
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59359243A>G , CM000680.2:g.59359243A>G | GRCh38 |
| NC_000018.9:g.57026475A>G , CM000680.1:g.57026475A>G | GRCh37 |
| NC_000018.8:g.55177455A>G | NCBI36 |
| NG_012097.1:g.5034T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251047.6:c.2T>C MANE Select | ENSP00000251047.4:p.Met1Thr | |
| ENST00000251047.5:c.2T>C | ENSP00000251047.4:p.Met1Thr | |
| ENST00000587561.1:n.23T>C | ||
| NM_005570.3:c.2T>C | NP_005561.1:p.Met1Thr | |
| NM_005570.4:c.2T>C MANE Select | NP_005561.1:p.Met1Thr |