Linked Data
ClinVar Variation Id:
100664
dbSNP Id:
rs587777137
gnomAD v4:
9-128947302-A-G
PubMed:
PMID:23890587
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128947302A>G , CM000671.2:g.128947302A>G | GRCh38 |
| NC_000009.11:g.131709581A>G , CM000671.1:g.131709581A>G | GRCh37 |
| NC_000009.10:g.130749402A>G | NCBI36 |
| NG_017009.1:g.5432T>C , LRG_744:g.5432T>C | |
| NG_033111.1:g.4610A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372586.4:c.2T>C MANE Select | ENSP00000361667.3:p.Met1Thr | |
| ENST00000372586.3:c.2T>C | ENSP00000361667.3:p.Met1Thr | |
| ENST00000482796.1:c.39-1887A>G | ENSP00000417556.2:n.39-1887A>G | |
| NM_014908.3:c.2T>C , LRG_744t1:c.2T>C | NP_055723.1:p.Met1Thr | |
| NM_014908.4:c.2T>C MANE Select | NP_055723.1:p.Met1Thr |