Linked Data
ClinVar Variation Id:
859765
ClinVar RCV Id:
RCV001065949
dbSNP Id:
rs1555836170
gnomAD v4:
21-31659832-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31659832C>G , CM000683.2:g.31659832C>G | GRCh38 |
| NC_000021.8:g.33032145C>G , CM000683.1:g.33032145C>G | GRCh37 |
| NC_000021.7:g.31954016C>G | NCBI36 |
| NG_008689.1:g.5211C>G , LRG_652:g.5211C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.63C>G MANE Select | ENSP00000270142.7:p.Phe21Leu | |
| ENST00000270142.10:c.63C>G | ENSP00000270142.6:p.Phe21Leu | |
| ENST00000389995.4:c.15+48C>G | ENSP00000374645.4:n.15+48C>G | |
| ENST00000470944.1:n.124C>G | ||
| ENST00000476106.5:n.140C>G | ||
| NM_000454.4:c.63C>G , LRG_652t1:c.63C>G | NP_000445.1:p.Phe21Leu | |
| NM_000454.5:c.63C>G MANE Select | NP_000445.1:p.Phe21Leu |