Linked Data
ClinVar Variation Id:
102790
dbSNP Id:
rs62517208
gnomAD v4:
12-102855143-G-T
ERepo:
CA229699/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855143G>T , CM000674.2:g.102855143G>T | GRCh38 |
| NC_000012.11:g.103248921G>T , CM000674.1:g.103248921G>T | GRCh37 |
| NC_000012.10:g.101773051G>T | NCBI36 |
| NG_008690.1:g.67460C>A | |
| NG_008690.2:g.108268C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.699C>A MANE Select | ENSP00000448059.1:p.Phe233Leu | |
| ENST00000307000.7:c.684C>A | ENSP00000303500.2:p.Phe228Leu | |
| ENST00000549111.5:n.795C>A | ||
| ENST00000553106.5:c.699C>A | ENSP00000448059.1:p.Phe233Leu | |
| NM_000277.1:c.699C>A | NP_000268.1:p.Phe233Leu | |
| XM_011538422.1:c.699C>A | XP_011536724.1:p.Phe233Leu | |
| NM_000277.2:c.699C>A | NP_000268.1:p.Phe233Leu | |
| NM_001354304.1:c.699C>A | NP_001341233.1:p.Phe233Leu | |
| XM_017019370.2:c.699C>A | XP_016874859.1:p.Phe233Leu | |
| NM_000277.3:c.699C>A MANE Select | NP_000268.1:p.Phe233Leu | |
| NM_001354304.2:c.699C>A | NP_001341233.1:p.Phe233Leu |