Linked Data
ClinVar Variation Id:
2713034
ClinVar RCV Id:
RCV003529003
dbSNP Id:
rs781831774
ExAC:
8:145107478 C / G
gnomAD v2:
8-145107478-C-G
gnomAD v4:
8-144052575-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144052575C>G , CM000670.2:g.144052575C>G | GRCh38 |
| NC_000008.10:g.145107478C>G , CM000670.1:g.145107478C>G | GRCh37 |
| NC_000008.9:g.145179466C>G | NCBI36 |
| NG_032671.1:g.13107G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000618853.5:c.3177G>C MANE Select | ENSP00000480476.1:p.Val1059= | |
| ENST00000618853.4:c.3177G>C | ENSP00000480476.1:p.Val1059= | |
| NM_017570.4:c.3177G>C | NP_060040.1:p.Val1059= | |
| XM_011516960.1:c.3465G>C | XP_011515262.1:p.Val1155= | |
| XR_001745509.1:n.3552G>C | ||
| NM_017570.5:c.3177G>C MANE Select | NP_060040.1:p.Val1059= |