Linked Data
ClinVar Variation Id:
1407800
ClinVar RCV Id:
RCV001918629
dbSNP Id:
rs2131618872
gnomAD v4:
8-86670967-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86670967G>T , CM000670.2:g.86670967G>T | GRCh38 |
| NC_000008.10:g.87683195G>T , CM000670.1:g.87683195G>T | GRCh37 |
| NC_000008.9:g.87752311G>T | NCBI36 |
| NG_016980.1:g.77709C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.470C>A MANE Select | ENSP00000316605.5:p.Ser157Ter | |
| ENST00000680314.1:n.231C>A | ||
| ENST00000681746.1:c.470C>A | ENSP00000505959.1:p.Ser157Ter | |
| ENST00000320005.5:c.470C>A | ENSP00000316605.5:p.Ser157Ter | |
| NM_019098.4:c.470C>A | NP_061971.3:p.Ser157Ter | |
| XM_011517138.1:c.56C>A | XP_011515440.1:p.Ser19Ter | |
| XM_011517138.2:c.56C>A | XP_011515440.1:p.Ser19Ter | |
| NM_019098.5:c.470C>A MANE Select | NP_061971.3:p.Ser157Ter |