Linked Data
ClinVar Variation Id:
162455
dbSNP Id:
rs140430952
ExAC:
13:95243122 C / A
gnomAD v2:
13-95243122-C-A
gnomAD v3:
13-94590868-C-A
gnomAD v4:
13-94590868-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.94590868C>A , CM000675.2:g.94590868C>A | GRCh38 |
| NC_000013.10:g.95243122C>A , CM000675.1:g.95243122C>A | GRCh37 |
| NC_000013.9:g.94041123C>A | NCBI36 |
| NG_041837.1:g.10408G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261296.7:c.298G>T MANE Select | ENSP00000261296.5:p.Ala100Ser | |
| ENST00000261296.6:c.298G>T | ENSP00000261296.5:p.Ala100Ser | |
| ENST00000498294.5:n.480G>T | ||
| NM_001304430.1:c.202G>T | NP_001291359.1:p.Ala68Ser | |
| NM_014305.3:c.298G>T | NP_055120.1:p.Ala100Ser | |
| NR_130731.1:n.437G>T | ||
| NR_130732.1:n.361+1373G>T | ||
| XM_011521065.1:c.202G>T | XP_011519367.1:p.Ala68Ser | |
| XM_011521066.1:c.202G>T | XP_011519368.1:p.Ala68Ser | |
| XM_011521065.2:c.202G>T | XP_011519367.1:p.Ala68Ser | |
| XM_011521066.2:c.202G>T | XP_011519368.1:p.Ala68Ser | |
| NM_014305.4:c.298G>T MANE Select | NP_055120.1:p.Ala100Ser | |
| NM_001304430.2:c.202G>T | NP_001291359.1:p.Ala68Ser | |
| NR_130731.2:n.314G>T | ||
| NR_130732.2:n.238+1373G>T |