Linked Data
ClinVar Variation Id:
1327558
ClinVar RCV Id:
RCV001789820
dbSNP Id:
rs62517208
gnomAD v4:
12-102855143-G-C
ERepo:
CA16020844/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855143G>C , CM000674.2:g.102855143G>C | GRCh38 |
| NC_000012.11:g.103248921G>C , CM000674.1:g.103248921G>C | GRCh37 |
| NC_000012.10:g.101773051G>C | NCBI36 |
| NG_008690.1:g.67460C>G | |
| NG_008690.2:g.108268C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.699C>G MANE Select | ENSP00000448059.1:p.Phe233Leu | |
| ENST00000307000.7:c.684C>G | ENSP00000303500.2:p.Phe228Leu | |
| ENST00000549111.5:n.795C>G | ||
| ENST00000553106.5:c.699C>G | ENSP00000448059.1:p.Phe233Leu | |
| NM_000277.1:c.699C>G | NP_000268.1:p.Phe233Leu | |
| XM_011538422.1:c.699C>G | XP_011536724.1:p.Phe233Leu | |
| NM_000277.2:c.699C>G | NP_000268.1:p.Phe233Leu | |
| NM_001354304.1:c.699C>G | NP_001341233.1:p.Phe233Leu | |
| XM_017019370.2:c.699C>G | XP_016874859.1:p.Phe233Leu | |
| NM_000277.3:c.699C>G MANE Select | NP_000268.1:p.Phe233Leu | |
| NM_001354304.2:c.699C>G | NP_001341233.1:p.Phe233Leu |