Linked Data
ClinVar Variation Id:
1462113
ClinVar RCV Id:
RCV001954185
dbSNP Id:
rs2113699190
gnomAD v4:
5-149981352-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981352C>T , CM000667.2:g.149981352C>T | GRCh38 |
| NC_000005.9:g.149360915C>T , CM000667.1:g.149360915C>T | GRCh37 |
| NC_000005.8:g.149341108C>T | NCBI36 |
| NG_007147.2:g.22470C>T , LRG_684:g.22470C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.1759C>T MANE Select | ENSP00000286298.4:p.Leu587Phe | |
| ENST00000286298.4:c.1759C>T | ENSP00000286298.4:p.Leu587Phe | |
| ENST00000503336.1:c.372+3001C>T | ENSP00000426053.1:n.372+3001C>T | |
| NM_000112.3:c.1759C>T , LRG_684t1:c.1759C>T | NP_000103.2:p.Leu587Phe | |
| XM_017009191.2:c.1759C>T | XP_016864680.1:p.Leu587Phe | |
| NM_000112.4:c.1759C>T MANE Select | NP_000103.2:p.Leu587Phe |