Linked Data
ClinVar Variation Id:
2846435
ClinVar RCV Id:
RCV003687891
dbSNP Id:
rs1823848112
gnomAD v4:
8-86670971-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86670971A>C , CM000670.2:g.86670971A>C | GRCh38 |
| NC_000008.10:g.87683199A>C , CM000670.1:g.87683199A>C | GRCh37 |
| NC_000008.9:g.87752315A>C | NCBI36 |
| NG_016980.1:g.77705T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.466T>G MANE Select | ENSP00000316605.5:p.Ser156Ala | |
| ENST00000680314.1:n.227T>G | ||
| ENST00000681746.1:c.466T>G | ENSP00000505959.1:p.Ser156Ala | |
| ENST00000320005.5:c.466T>G | ENSP00000316605.5:p.Ser156Ala | |
| NM_019098.4:c.466T>G | NP_061971.3:p.Ser156Ala | |
| XM_011517138.1:c.52T>G | XP_011515440.1:p.Ser18Ala | |
| XM_011517138.2:c.52T>G | XP_011515440.1:p.Ser18Ala | |
| NM_019098.5:c.466T>G MANE Select | NP_061971.3:p.Ser156Ala |