Linked Data
ClinVar Variation Id:
1780172
ClinVar RCV Id:
RCV002404201
dbSNP Id:
rs1649201569
gnomAD v4:
1-115768364-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768364C>G , CM000663.2:g.115768364C>G | GRCh38 |
| NC_000001.10:g.116310985C>G , CM000663.1:g.116310985C>G | GRCh37 |
| NC_000001.9:g.116112508C>G | NCBI36 |
| NG_008802.1:g.5442G>C , LRG_404:g.5442G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.-99G>C | ENSP00000518226.1:n.-99G>C | |
| ENST00000261448.6:c.178G>C MANE Select | ENSP00000261448.5:p.Val60Leu | |
| ENST00000261448.5:c.178G>C | ENSP00000261448.5:p.Val60Leu | |
| NM_001232.3:c.178G>C , LRG_404t1:c.178G>C | NP_001223.2:p.Val60Leu | |
| NM_001232.4:c.178G>C MANE Select | NP_001223.2:p.Val60Leu |