Linked Data
dbSNP Id:
rs1415546787
gnomAD v2:
18-55833007-C-T
gnomAD v3:
18-58165775-C-T
gnomAD v4:
18-58165775-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.58165775C>T , CM000680.2:g.58165775C>T | GRCh38 |
| NC_000018.9:g.55833007C>T , CM000680.1:g.55833007C>T | GRCh37 |
| NC_000018.8:g.53984005C>T | NCBI36 |
| NG_029954.1:g.126398C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400345.8:c.49-13C>T MANE Select | ENSP00000383199.2:n.49-13C>T | |
| ENST00000585594.6:n.26-13C>T | ||
| ENST00000674613.1:n.98-79652C>T | ||
| ENST00000674845.1:c.*555-13C>T | ENSP00000502309.1:n.*555-13C>T | |
| ENST00000675137.1:n.171-13C>T | ||
| ENST00000675147.1:c.28-13C>T | ENSP00000501840.1:n.28-13C>T | |
| ENST00000675227.1:c.95-13C>T | ENSP00000502649.1:n.95-13C>T | |
| ENST00000675502.1:c.-315-13C>T | ENSP00000502428.1:n.-315-13C>T | |
| ENST00000675554.1:n.165-13C>T | ||
| ENST00000675801.1:c.-315-13C>T | ENSP00000502688.1:n.-315-13C>T | |
| ENST00000676024.1:c.49-13C>T | ENSP00000502105.1:n.49-13C>T | |
| ENST00000676223.1:c.10-13C>T | ENSP00000502361.1:n.10-13C>T | |
| ENST00000256830.13:c.49-13C>T | ENSP00000256830.8:n.49-13C>T | |
| ENST00000356462.10:c.49-13C>T | ENSP00000348847.5:n.49-13C>T | |
| ENST00000357895.9:c.25-13C>T | ENSP00000350569.4:n.25-13C>T | |
| ENST00000382850.8:c.49-13C>T | ENSP00000372301.3:n.49-13C>T | |
| ENST00000400345.7:c.49-13C>T | ENSP00000383199.2:n.49-13C>T | |
| ENST00000435432.6:c.-393-13C>T | ENSP00000393395.1:n.-393-13C>T | |
| ENST00000456986.5:c.-315-13C>T | ENSP00000411947.1:n.-315-13C>T | |
| ENST00000585363.5:n.86-13C>T | ||
| ENST00000585594.5:n.169-13C>T | ||
| ENST00000586263.5:c.25-13C>T | ENSP00000468546.1:n.25-13C>T | |
| ENST00000587547.1:n.838-13C>T | ||
| ENST00000588516.5:n.1149-13C>T | ||
| ENST00000589054.5:c.48+121067C>T | ENSP00000465669.1:n.48+121067C>T | |
| ENST00000590694.5:n.92-13C>T | ||
| ENST00000591579.5:n.93-13C>T | ||
| ENST00000591989.5:n.101-17C>T | ||
| ENST00000592846.5:c.-370-17C>T | ENSP00000466776.1:n.-370-17C>T | |
| NM_001144964.1:c.-315-13C>T | NP_001138436.1:n.-315-13C>T | |
| NM_001144965.1:c.-315-13C>T | NP_001138437.1:n.-315-13C>T | |
| NM_001144967.2:c.49-13C>T | NP_001138439.1:n.49-13C>T | |
| NM_001144968.1:c.25-13C>T | NP_001138440.1:n.25-13C>T | |
| NM_001144969.1:c.25-13C>T | NP_001138441.1:n.25-13C>T | |
| NM_001144971.1:c.-393-13C>T | NP_001138443.1:n.-393-13C>T | |
| NM_001243960.1:c.49-13C>T | NP_001230889.1:n.49-13C>T | |
| NM_015277.5:c.49-13C>T | NP_056092.2:n.49-13C>T | |
| XM_006722426.2:c.49-13C>T | XP_006722489.1:n.49-13C>T | |
| XM_006722428.2:c.49-13C>T | XP_006722491.1:n.49-13C>T | |
| XM_011525887.1:c.25-13C>T | XP_011524189.1:n.25-13C>T | |
| XM_006722426.4:c.49-13C>T | XP_006722489.1:n.49-13C>T | |
| XM_006722428.4:c.49-13C>T | XP_006722491.1:n.49-13C>T | |
| XM_011525887.3:c.25-13C>T | XP_011524189.1:n.25-13C>T | |
| XM_017025678.2:c.49-13C>T | XP_016881167.1:n.49-13C>T | |
| XM_024451129.1:c.-393-13C>T | XP_024306897.1:n.-393-13C>T | |
| XM_024451131.1:c.-315-13C>T | XP_024306899.1:n.-315-13C>T | |
| XM_024451134.1:c.-374-13C>T | XP_024306902.1:n.-374-13C>T | |
| XM_024451135.1:c.-315-13C>T | XP_024306903.1:n.-315-13C>T | |
| XM_024451136.1:c.-315-13C>T | XP_024306904.1:n.-315-13C>T | |
| XM_024451137.1:c.-393-13C>T | XP_024306905.1:n.-393-13C>T | |
| NM_001144967.3:c.49-13C>T MANE Select | NP_001138439.1:n.49-13C>T | |
| NM_001144965.2:c.-315-13C>T | NP_001138437.1:n.-315-13C>T | |
| NM_001144968.2:c.25-13C>T | NP_001138440.1:n.25-13C>T | |
| NM_001144969.2:c.25-13C>T | NP_001138441.1:n.25-13C>T | |
| NM_001144971.2:c.-393-13C>T | NP_001138443.1:n.-393-13C>T | |
| NM_001243960.2:c.49-13C>T | NP_001230889.1:n.49-13C>T | |
| NM_015277.6:c.49-13C>T | NP_056092.2:n.49-13C>T |