Linked Data
ClinVar Variation Id:
4604
ClinVar RCV Id:
RCV000004867
dbSNP Id:
rs28937889
PubMed:
PMID:12483299
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142742385T>G , CM000670.2:g.142742385T>G | GRCh38 |
| NC_000008.10:g.143823803T>G , CM000670.1:g.143823803T>G | GRCh37 |
| NC_000008.9:g.143820805T>G | NCBI36 |
| NG_011494.1:g.5027A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246515.2:c.1A>C MANE Select | ENSP00000246515.1:p.Met1Leu | |
| ENST00000246515.1:c.1A>C | ENSP00000246515.1:p.Met1Leu | |
| NM_020427.2:c.1A>C | NP_065160.1:p.Met1Leu | |
| NM_020427.3:c.1A>C MANE Select | NP_065160.1:p.Met1Leu |