Linked Data
dbSNP Id:
rs397517847
ExAC:
1:78401713 C / T
gnomAD v2:
1-78401713-C-T
gnomAD v3:
1-77936028-C-T
gnomAD v4:
1-77936028-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77936028C>T , CM000663.2:g.77936028C>T | GRCh38 |
| NC_000001.10:g.78401713C>T , CM000663.1:g.78401713C>T | GRCh37 |
| NC_000001.9:g.78174301C>T | NCBI36 |
| NG_016625.1:g.52514C>T , LRG_442:g.52514C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334785.12:c.1457C>T MANE Select | ENSP00000333938.7:p.Ala486Val | |
| ENST00000330010.12:c.1265C>T | ENSP00000327363.8:p.Ala422Val | |
| ENST00000334785.11:c.1457C>T | ENSP00000333938.7:p.Ala486Val | |
| ENST00000342754.5:c.1156C>T | ||
| ENST00000480732.2:n.1031C>T | ||
| NM_001172309.1:c.1265C>T | NP_001165780.1:p.Ala422Val | |
| NM_144573.3:c.1457C>T , LRG_442t1:c.1457C>T | NP_653174.3:p.Ala486Val | |
| XM_005271322.2:c.1457C>T | XP_005271379.1:p.Ala486Val | |
| XM_005271323.2:c.1415C>T | XP_005271380.1:p.Ala472Val | |
| XM_005271324.3:c.1265C>T | XP_005271381.1:p.Ala422Val | |
| XM_005271325.2:c.1251+2549C>T | XP_005271382.1:n.1251+2549C>T | |
| XM_005271326.2:c.1223C>T | XP_005271383.1:p.Ala408Val | |
| XM_005271327.2:c.1040C>T | XP_005271384.1:p.Ala347Val | |
| XM_005271322.4:c.1457C>T | XP_005271379.1:p.Ala486Val | |
| XM_005271323.4:c.1415C>T | XP_005271380.1:p.Ala472Val | |
| XM_005271324.5:c.1265C>T | XP_005271381.1:p.Ala422Val | |
| XM_005271325.4:c.1251+2549C>T | XP_005271382.1:n.1251+2549C>T | |
| XM_005271326.4:c.1223C>T | XP_005271383.1:p.Ala408Val | |
| XM_005271327.4:c.1040C>T | XP_005271384.1:p.Ala347Val | |
| NM_001172309.2:c.1265C>T | NP_001165780.1:p.Ala422Val | |
| NM_144573.4:c.1457C>T MANE Select | NP_653174.3:p.Ala486Val |