Linked Data
ClinVar Variation Id:
1494287
ClinVar RCV Id:
RCV001989239
dbSNP Id:
rs1322454000
gnomAD v2:
1-94467512-C-G
gnomAD v4:
1-94001956-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001956C>G , CM000663.2:g.94001956C>G | GRCh38 |
| NC_000001.10:g.94467512C>G , CM000663.1:g.94467512C>G | GRCh37 |
| NC_000001.9:g.94240100C>G | NCBI36 |
| NG_009073.1:g.124194G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6184G>C MANE Select | ENSP00000359245.3:p.Val2062Leu | |
| ENST00000370225.3:c.6184G>C | ENSP00000359245.3:p.Val2062Leu | |
| ENST00000465352.1:n.600G>C | ||
| ENST00000536513.5:c.2560G>C | ENSP00000439707.2:p.Val854Leu | |
| NM_000350.2:c.6184G>C | NP_000341.2:p.Val2062Leu | |
| NM_000350.3:c.6184G>C MANE Select | NP_000341.2:p.Val2062Leu |