Linked Data
ClinVar Variation Id:
1983518
ClinVar RCV Id:
RCV002756596
dbSNP Id:
rs1287941897
gnomAD v2:
3-129247706-A-C
gnomAD v4:
3-129528863-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129528863A>C , CM000665.2:g.129528863A>C | GRCh38 |
| NC_000003.11:g.129247706A>C , CM000665.1:g.129247706A>C | GRCh37 |
| NC_000003.10:g.130730396A>C | NCBI36 |
| NG_009115.1:g.5225A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.130A>C MANE Select | ENSP00000296271.3:p.Met44Leu | |
| ENST00000296271.3:c.130A>C | ENSP00000296271.3:p.Met44Leu | |
| NM_000539.3:c.130A>C MANE Select | NP_000530.1:p.Met44Leu |