Linked Data
ClinVar Variation Id:
16186
ClinVar RCV Id:
RCV000017570
dbSNP Id:
rs80358226
PubMed:
PMID:12107443
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58577155A>C , CM000663.2:g.58577155A>C | GRCh38 |
| NC_000001.10:g.59042827A>C , CM000663.1:g.59042827A>C | GRCh37 |
| NC_000001.9:g.58815415A>C | NCBI36 |
| NG_016237.1:g.5340T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371225.4:c.2T>G MANE Select | ENSP00000360269.2:p.Met1Arg | |
| ENST00000371225.3:c.2T>G | ENSP00000360269.2:p.Met1Arg | |
| NM_002353.2:c.2T>G | NP_002344.2:p.Met1Arg | |
| NM_002353.3:c.2T>G MANE Select | NP_002344.2:p.Met1Arg |