Linked Data
ClinVar Variation Id:
522731
ClinVar RCV Id:
RCV000625888
dbSNP Id:
rs1446100794
gnomAD v2:
22-29660118-G-A
gnomAD v3:
22-29264129-G-A
gnomAD v4:
22-29264129-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29264129G>A , CM000684.2:g.29264129G>A | GRCh38 |
| NC_000022.10:g.29660118G>A , CM000684.1:g.29660118G>A | GRCh37 |
| NC_000022.9:g.27990118G>A | NCBI36 |
| NG_023240.1:g.1121G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216085.12:c.238C>T MANE Select | ENSP00000216085.7:p.Gln80Ter | |
| ENST00000216085.11:c.238C>T | ENSP00000216085.7:p.Gln80Ter | |
| ENST00000406335.1:c.238C>T | ENSP00000384113.1:p.Gln80Ter | |
| ENST00000413137.6:c.148+1350C>T | ENSP00000399550.2:n.148+1350C>T | |
| ENST00000414672.5:c.238C>T | ENSP00000413128.1:p.Gln80Ter | |
| ENST00000496342.1:n.273C>T | ||
| NM_012265.1:c.238C>T | NP_036397.1:p.Gln80Ter | |
| XM_006724224.2:c.148+1350C>T | XP_006724287.1:n.148+1350C>T | |
| XM_011530107.1:c.238C>T | XP_011528409.1:p.Gln80Ter | |
| NM_001329536.1:c.238C>T | NP_001316465.1:p.Gln80Ter | |
| NM_012265.2:c.238C>T | NP_036397.1:p.Gln80Ter | |
| NR_138044.1:n.590+1350C>T | ||
| XM_006724224.4:c.148+1350C>T | XP_006724287.1:n.148+1350C>T | |
| XM_017028750.2:c.-429+1350C>T | XP_016884239.1:n.-429+1350C>T | |
| XM_024452208.1:c.247C>T | XP_024307976.1:p.Gln83Ter | |
| XM_024452209.1:c.247C>T | XP_024307977.1:p.Gln83Ter | |
| NM_012265.3:c.238C>T MANE Select | NP_036397.1:p.Gln80Ter | |
| NR_138044.2:n.576+1350C>T |