Linked Data
ClinVar Variation Id:
1696913
dbSNP Id:
rs753913368
ExAC:
8:61761645 C / T
gnomAD v2:
8-61761645-C-T
gnomAD v3:
8-60849086-C-T
gnomAD v4:
8-60849086-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60849086C>T , CM000670.2:g.60849086C>T | GRCh38 |
| NC_000008.10:g.61761645C>T , CM000670.1:g.61761645C>T | GRCh37 |
| NC_000008.9:g.61924199C>T | NCBI36 |
| NG_007009.1:g.175307C>T , LRG_176:g.175307C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695853.1:c.5336C>T | ENSP00000512218.1:p.Ala1779Val | |
| ENST00000423902.7:c.5336C>T MANE Select | ENSP00000392028.1:p.Ala1779Val | |
| ENST00000423902.6:c.5336C>T | ENSP00000392028.1:p.Ala1779Val | |
| ENST00000524602.5:c.1717-13143C>T | ENSP00000437061.1:n.1717-13143C>T | |
| NM_001316690.1:c.1717-13143C>T | NP_001303619.1:n.1717-13143C>T | |
| NM_017780.3:c.5336C>T | NP_060250.2:p.Ala1779Val | |
| XM_011517553.1:c.5426C>T | XP_011515855.1:p.Ala1809Val | |
| XM_011517554.1:c.5426C>T | XP_011515856.1:p.Ala1809Val | |
| XM_011517555.1:c.5426C>T | XP_011515857.1:p.Ala1809Val | |
| XM_011517556.1:c.5426C>T | XP_011515858.1:p.Ala1809Val | |
| XM_011517557.1:c.3413C>T | XP_011515859.1:p.Ala1138Val | |
| XM_011517558.1:c.2963C>T | XP_011515860.1:p.Ala988Val | |
| XM_011517559.1:c.2171C>T | XP_011515861.1:p.Ala724Val | |
| XM_011517553.2:c.5426C>T | XP_011515855.1:p.Ala1809Val | |
| XM_011517554.3:c.5426C>T | XP_011515856.1:p.Ala1809Val | |
| XM_011517555.2:c.5426C>T | XP_011515857.1:p.Ala1809Val | |
| XM_017013612.1:c.5426C>T | XP_016869101.1:p.Ala1809Val | |
| XM_017013613.1:c.5336C>T | XP_016869102.1:p.Ala1779Val | |
| NM_017780.4:c.5336C>T MANE Select | NP_060250.2:p.Ala1779Val |