Linked Data
ClinVar Variation Id:
1122322
dbSNP Id:
rs367657296
ExAC:
22:19751837 C / T
gnomAD v2:
22-19751837-C-T
gnomAD v3:
22-19764314-C-T
gnomAD v4:
22-19764314-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19764314C>T , CM000684.2:g.19764314C>T | GRCh38 |
| NC_000022.10:g.19751837C>T , CM000684.1:g.19751837C>T | GRCh37 |
| NC_000022.9:g.18131837C>T | NCBI36 |
| NG_009229.1:g.12612C>T , LRG_226:g.12612C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700274.1:c.225C>T | ENSP00000514909.1:p.Asp75= | |
| ENST00000649276.2:c.699C>T MANE Select | ENSP00000497003.1:p.Asp233= | |
| ENST00000680333.1:c.672C>T | ENSP00000505472.1:p.Asp224= | |
| ENST00000329705.11:c.672C>T | ENSP00000331176.7:p.Asp224= | |
| ENST00000332710.8:c.672C>T | ENSP00000331791.4:p.Asp224= | |
| ENST00000359500.7:c.672C>T | ENSP00000352483.3:p.Asp224= | |
| ENST00000621939.1:c.672C>T | ENSP00000477982.1:p.Asp224= | |
| NM_005992.1:c.672C>T | NP_005983.1:p.Asp224= | |
| NM_080646.1:c.672C>T | NP_542377.1:p.Asp224= | |
| NM_080647.1:c.672C>T , LRG_226t1:c.672C>T | NP_542378.1:p.Asp224= | |
| XM_006724312.1:c.672C>T | XP_006724375.1:p.Asp224= | |
| XM_011530351.1:c.699C>T | XP_011528653.1:p.Asp233= | |
| XM_006724312.2:c.672C>T | XP_006724375.1:p.Asp224= | |
| XM_017028925.1:c.822C>T | XP_016884414.1:p.Asp274= | |
| XM_017028926.1:c.672C>T | XP_016884415.1:p.Asp224= | |
| XM_017028928.1:c.822C>T | XP_016884417.1:p.Asp274= | |
| NM_001379200.1:c.699C>T MANE Select | NP_001366129.1:p.Asp233= | |
| NM_080646.2:c.672C>T | NP_542377.1:p.Asp224= |