Linked Data
ClinVar Variation Id:
7884
ClinVar RCV Id:
RCV000008335
RCV000078671
RCV000340261
RCV000259072
RCV000285333
RCV000393715
RCV000393726
RCV000504806
RCV000778139
RCV000787769
RCV001075661
RCV002470704
dbSNP Id:
rs41292677
ExAC:
1:94467548 C / G
gnomAD v2:
1-94467548-C-G
gnomAD v3:
1-94001992-C-G
gnomAD v4:
1-94001992-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001992C>G , CM000663.2:g.94001992C>G | GRCh38 |
| NC_000001.10:g.94467548C>G , CM000663.1:g.94467548C>G | GRCh37 |
| NC_000001.9:g.94240136C>G | NCBI36 |
| NG_009073.1:g.124158G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6148G>C MANE Select | ENSP00000359245.3:p.Val2050Leu | |
| ENST00000370225.3:c.6148G>C | ENSP00000359245.3:p.Val2050Leu | |
| ENST00000465352.1:n.564G>C | ||
| ENST00000536513.5:c.2524G>C | ENSP00000439707.2:p.Val842Leu | |
| NM_000350.2:c.6148G>C | NP_000341.2:p.Val2050Leu | |
| NM_000350.3:c.6148G>C MANE Select | NP_000341.2:p.Val2050Leu |