Linked Data
ClinVar Variation Id:
1494451
ClinVar RCV Id:
RCV002015009
dbSNP Id:
rs1226753246
gnomAD v4:
7-92517863-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517863G>C , CM000669.2:g.92517863G>C | GRCh38 |
| NC_000007.13:g.92147177G>C , CM000669.1:g.92147177G>C | GRCh37 |
| NC_000007.12:g.91985113G>C | NCBI36 |
| NG_008341.1:g.15669C>G | |
| NG_008341.2:g.15669C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.652C>G MANE Select | ENSP00000248633.4:p.Leu218Val | |
| ENST00000248633.8:c.652C>G | ENSP00000248633.4:p.Leu218Val | |
| ENST00000428214.5:c.652C>G | ENSP00000394413.1:p.Leu218Val | |
| ENST00000438045.5:c.274-3896C>G | ENSP00000410438.1:n.274-3896C>G | |
| ENST00000484913.5:n.691C>G | ||
| NM_000466.2:c.652C>G | NP_000457.1:p.Leu218Val | |
| NM_001282677.1:c.652C>G | NP_001269606.1:p.Leu218Val | |
| NM_001282678.1:c.28C>G | NP_001269607.1:p.Leu10Val | |
| XR_242246.3:n.748C>G | ||
| XR_242246.5:n.699C>G | ||
| NM_000466.3:c.652C>G MANE Select | NP_000457.1:p.Leu218Val | |
| NM_001282677.2:c.652C>G | NP_001269606.1:p.Leu218Val | |
| NM_001282678.2:c.28C>G | NP_001269607.1:p.Leu10Val |