Linked Data
ClinVar Variation Id:
7303
ClinVar RCV Id:
RCV000007726
dbSNP Id:
rs104894574
PubMed:
PMID:10973318
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42184503A>C , CM000679.2:g.42184503A>C | GRCh38 |
| NC_000017.10:g.40336521A>C , CM000679.1:g.40336521A>C | GRCh37 |
| NC_000017.9:g.37590047A>C | NCBI36 |
| NG_011448.1:g.5950T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000293330.1:c.47T>G MANE Select | ENSP00000293330.1:p.Leu16Arg | |
| NM_001524.1:c.47T>G MANE Select | NP_001515.1:p.Leu16Arg |