Linked Data
ClinVar Variation Id:
492981
ClinVar RCV Id:
RCV000584821
dbSNP Id:
rs1553239999
gnomAD v4:
1-77933291-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77933291G>C , CM000663.2:g.77933291G>C | GRCh38 |
| NC_000001.10:g.78398976G>C , CM000663.1:g.78398976G>C | GRCh37 |
| NC_000001.9:g.78171564G>C | NCBI36 |
| NG_016625.1:g.49777G>C , LRG_442:g.49777G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334785.12:c.1063G>C MANE Select | ENSP00000333938.7:p.Asp355His | |
| ENST00000330010.12:c.871G>C | ENSP00000327363.8:p.Asp291His | |
| ENST00000334785.11:c.1063G>C | ENSP00000333938.7:p.Asp355His | |
| ENST00000342754.5:c.762G>C | ||
| ENST00000401035.7:c.871G>C | ENSP00000383814.3:p.Asp291His | |
| ENST00000440324.5:c.1021G>C | ENSP00000411902.1:p.Asp341His | |
| ENST00000464998.1:n.523G>C | ||
| ENST00000480732.2:n.637G>C | ||
| NM_001172309.1:c.871G>C | NP_001165780.1:p.Asp291His | |
| NM_144573.3:c.1063G>C , LRG_442t1:c.1063G>C | NP_653174.3:p.Asp355His | |
| XM_005271322.2:c.1063G>C | XP_005271379.1:p.Asp355His | |
| XM_005271323.2:c.1021G>C | XP_005271380.1:p.Asp341His | |
| XM_005271324.3:c.871G>C | XP_005271381.1:p.Asp291His | |
| XM_005271325.2:c.1063G>C | XP_005271382.1:p.Asp355His | |
| XM_005271326.2:c.829G>C | XP_005271383.1:p.Asp277His | |
| XM_005271327.2:c.646G>C | XP_005271384.1:p.Asp216His | |
| XM_005271322.4:c.1063G>C | XP_005271379.1:p.Asp355His | |
| XM_005271323.4:c.1021G>C | XP_005271380.1:p.Asp341His | |
| XM_005271324.5:c.871G>C | XP_005271381.1:p.Asp291His | |
| XM_005271325.4:c.1063G>C | XP_005271382.1:p.Asp355His | |
| XM_005271326.4:c.829G>C | XP_005271383.1:p.Asp277His | |
| XM_005271327.4:c.646G>C | XP_005271384.1:p.Asp216His | |
| NM_001172309.2:c.871G>C | NP_001165780.1:p.Asp291His | |
| NM_144573.4:c.1063G>C MANE Select | NP_653174.3:p.Asp355His |