Linked Data
ClinVar Variation Id:
2297470
ClinVar RCV Id:
RCV004145333
dbSNP Id:
rs1212546905
gnomAD v3:
8-16993125-C-G
gnomAD v4:
8-16993125-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16993125C>G , CM000670.2:g.16993125C>G | GRCh38 |
| NC_000008.10:g.16850634C>G , CM000670.1:g.16850634C>G | GRCh37 |
| NC_000008.9:g.16895005C>G | NCBI36 |
| NG_015978.1:g.14041G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.583G>C MANE Select | ENSP00000180166.5:p.Val195Leu | |
| ENST00000180166.5:c.583G>C | ENSP00000180166.5:p.Val195Leu | |
| ENST00000519941.1:c.287G>C | ||
| NM_019851.2:c.583G>C | NP_062825.1:p.Val195Leu | |
| NM_019851.3:c.583G>C MANE Select | NP_062825.1:p.Val195Leu |