Linked Data
dbSNP Id:
rs761034050
ExAC:
8:61773562 C / T
gnomAD v2:
8-61773562-C-T
gnomAD v4:
8-60861003-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60861003C>T , CM000670.2:g.60861003C>T | GRCh38 |
| NC_000008.10:g.61773562C>T , CM000670.1:g.61773562C>T | GRCh37 |
| NC_000008.9:g.61936116C>T | NCBI36 |
| NG_007009.1:g.187224C>T , LRG_176:g.187224C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695850.1:n.884C>T | ||
| ENST00000695851.1:n.88C>T | ||
| ENST00000695853.1:c.*767C>T | ENSP00000512218.1:n.*767C>T | |
| ENST00000423902.7:c.7708C>T MANE Select | ENSP00000392028.1:p.Pro2570Ser | |
| ENST00000423902.6:c.7708C>T | ENSP00000392028.1:p.Pro2570Ser | |
| ENST00000524602.5:c.1717-1226C>T | ENSP00000437061.1:n.1717-1226C>T | |
| ENST00000531695.1:n.132C>T | ||
| ENST00000618450.1:n.100C>T | ||
| NM_001316690.1:c.1717-1226C>T | NP_001303619.1:n.1717-1226C>T | |
| NM_017780.3:c.7708C>T | NP_060250.2:p.Pro2570Ser | |
| XM_011517553.1:c.7798C>T | XP_011515855.1:p.Pro2600Ser | |
| XM_011517554.1:c.7798C>T | XP_011515856.1:p.Pro2600Ser | |
| XM_011517555.1:c.7795C>T | XP_011515857.1:p.Pro2599Ser | |
| XM_011517556.1:c.7699-1193C>T | XP_011515858.1:n.7699-1193C>T | |
| XM_011517557.1:c.5785C>T | XP_011515859.1:p.Pro1929Ser | |
| XM_011517558.1:c.5335C>T | XP_011515860.1:p.Pro1779Ser | |
| XM_011517559.1:c.4543C>T | XP_011515861.1:p.Pro1515Ser | |
| XM_011517553.2:c.7798C>T | XP_011515855.1:p.Pro2600Ser | |
| XM_011517554.3:c.7798C>T | XP_011515856.1:p.Pro2600Ser | |
| XM_011517555.2:c.7795C>T | XP_011515857.1:p.Pro2599Ser | |
| XM_017013612.1:c.7798C>T | XP_016869101.1:p.Pro2600Ser | |
| XM_017013613.1:c.7705C>T | XP_016869102.1:p.Pro2569Ser | |
| NM_017780.4:c.7708C>T MANE Select | NP_060250.2:p.Pro2570Ser |