Linked Data
ClinVar Variation Id:
1042968
ClinVar RCV Id:
RCV001347007
dbSNP Id:
rs752093054
ExAC:
1:160249635 G / C
gnomAD v2:
1-160249635-G-C
gnomAD v3:
1-160279845-G-C
gnomAD v4:
1-160279845-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160279845G>C , CM000663.2:g.160279845G>C | GRCh38 |
| NC_000001.10:g.160249635G>C , CM000663.1:g.160249635G>C | GRCh37 |
| NC_000001.9:g.158516259G>C | NCBI36 |
| NG_008637.1:g.10307C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368072.10:c.772C>G MANE Select | ENSP00000357051.5:p.Leu258Val | |
| ENST00000556710.6:c.*453C>G | ENSP00000451235.2:n.*453C>G | |
| ENST00000647676.1:c.70C>G | ENSP00000497162.1:p.Leu24Val | |
| ENST00000368072.9:c.772C>G | ENSP00000357051.5:p.Leu258Val | |
| ENST00000462644.5:c.*125C>G | ENSP00000435896.1:n.*125C>G | |
| ENST00000467711.5:n.14C>G | ||
| ENST00000472750.5:c.*539C>G | ENSP00000434633.1:n.*539C>G | |
| ENST00000485079.1:c.382C>G | ENSP00000450870.1:p.Leu128Val | |
| ENST00000495624.1:c.284C>G | ||
| ENST00000532508.5:n.854C>G | ||
| ENST00000532643.5:c.*125C>G | ENSP00000435915.1:n.*125C>G | |
| ENST00000556710.5:c.331C>G | ENSP00000451235.1:p.Leu111Val | |
| NM_001193644.1:c.772C>G | NP_001180573.1:p.Leu258Val | |
| NM_002857.3:c.772C>G | NP_002848.1:p.Leu258Val | |
| NR_036492.1:n.689C>G | ||
| NR_036493.1:n.713C>G | ||
| NM_002857.4:c.772C>G MANE Select | NP_002848.1:p.Leu258Val | |
| NR_036492.2:n.671C>G | ||
| NR_036493.2:n.695C>G |