Linked Data
ClinVar Variation Id:
553311
ClinVar RCV Id:
RCV000668727
dbSNP Id:
rs1260455415
gnomAD v4:
11-2167882-C-T
COSMIC:
COSM5172633
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2167882C>T , CM000673.2:g.2167882C>T | GRCh38 |
| NC_000011.9:g.2189112C>T , CM000673.1:g.2189112C>T | GRCh37 |
| NC_000011.8:g.2145688C>T | NCBI36 |
| NG_008128.1:g.8924G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.628G>A MANE Select | ENSP00000325951.4:p.Ala210Thr | |
| ENST00000324155.8:c.*317G>A | ENSP00000325831.3:n.*317G>A | |
| ENST00000333684.9:c.628G>A | ENSP00000328814.6:p.Ala210Thr | |
| ENST00000352909.7:c.628G>A | ENSP00000325951.3:p.Ala210Thr | |
| ENST00000381168.7:c.*317G>A | ENSP00000370560.3:n.*317G>A | |
| ENST00000381175.5:c.709G>A | ENSP00000370567.1:p.Ala237Thr | |
| ENST00000381178.5:c.721G>A | ENSP00000370571.1:p.Ala241Thr | |
| ENST00000412076.1:c.68G>A | ||
| ENST00000416223.5:c.68G>A | ||
| ENST00000469226.1:n.377G>A | ||
| NM_000360.3:c.628G>A | NP_000351.2:p.Ala210Thr | |
| NM_199292.2:c.721G>A | NP_954986.2:p.Ala241Thr | |
| NM_199293.2:c.709G>A | NP_954987.2:p.Ala237Thr | |
| XM_011520335.1:c.640G>A | XP_011518637.1:p.Ala214Thr | |
| XM_011520335.2:c.640G>A | XP_011518637.1:p.Ala214Thr | |
| NM_000360.4:c.628G>A MANE Select | NP_000351.2:p.Ala210Thr | |
| NM_199292.3:c.721G>A | NP_954986.2:p.Ala241Thr | |
| NM_199293.3:c.709G>A | NP_954987.2:p.Ala237Thr |