Linked Data
dbSNP Id:
rs7527939
gnomAD v2:
1-210536025-C-T
gnomAD v3:
1-210362681-C-T
gnomAD v4:
1-210362681-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.210362681C>T , CM000663.2:g.210362681C>T | GRCh38 |
| NC_000001.10:g.210536025C>T , CM000663.1:g.210536025C>T | GRCh37 |
| NC_000001.9:g.208602648C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261458.8:c.92-171C>T MANE Select | ENSP00000261458.3:n.92-171C>T | |
| ENST00000261458.7:c.92-171C>T | ENSP00000261458.3:n.92-171C>T | |
| ENST00000367010.5:c.92-171C>T | ENSP00000355977.1:n.92-171C>T | |
| ENST00000413764.6:c.92-171C>T | ENSP00000416845.2:n.92-171C>T | |
| ENST00000537898.5:c.92-171C>T | ENSP00000442625.1:n.92-171C>T | |
| ENST00000541565.5:c.92-171C>T | ENSP00000444995.1:n.92-171C>T | |
| ENST00000545154.5:c.95-171C>T | ENSP00000438468.1:n.95-171C>T | |
| NM_001122834.3:c.92-171C>T | NP_001116306.1:n.92-171C>T | |
| NM_001170564.2:c.92-171C>T | NP_001164035.1:n.92-171C>T | |
| NM_001170580.2:c.92-171C>T | NP_001164051.1:n.92-171C>T | |
| NM_001170587.2:c.95-171C>T | NP_001164058.1:n.95-171C>T | |
| NM_001170588.2:c.92-171C>T | NP_001164059.1:n.92-171C>T | |
| NM_018194.5:c.92-171C>T | NP_060664.2:n.92-171C>T | |
| XM_006711441.2:c.194-171C>T | XP_006711504.1:n.194-171C>T | |
| XM_011509737.1:c.194-171C>T | XP_011508039.1:n.194-171C>T | |
| XM_011509738.1:c.95-171C>T | XP_011508040.1:n.95-171C>T | |
| XM_011509739.1:c.92-171C>T | XP_011508041.1:n.92-171C>T | |
| XM_011509740.1:c.92-171C>T | XP_011508042.1:n.92-171C>T | |
| XM_011509741.1:c.92-171C>T | XP_011508043.1:n.92-171C>T | |
| XM_011509742.1:c.194-171C>T | XP_011508044.1:n.194-171C>T | |
| XM_011509743.1:c.194-171C>T | XP_011508045.1:n.194-171C>T | |
| XM_011509744.1:c.19-24787C>T | XP_011508046.1:n.19-24787C>T | |
| XM_011509745.1:c.194-171C>T | XP_011508047.1:n.194-171C>T | |
| XM_011509746.1:c.92-171C>T | XP_011508048.1:n.92-171C>T | |
| XM_011509747.1:c.-30-24787C>T | XP_011508049.1:n.-30-24787C>T | |
| XM_006711441.3:c.194-171C>T | XP_006711504.1:n.194-171C>T | |
| XM_011509737.2:c.194-171C>T | XP_011508039.1:n.194-171C>T | |
| XM_011509738.2:c.95-171C>T | XP_011508040.1:n.95-171C>T | |
| XM_011509739.2:c.92-171C>T | XP_011508041.1:n.92-171C>T | |
| XM_011509740.2:c.92-171C>T | XP_011508042.1:n.92-171C>T | |
| XM_011509741.2:c.92-171C>T | XP_011508043.1:n.92-171C>T | |
| XM_011509742.2:c.194-171C>T | XP_011508044.1:n.194-171C>T | |
| XM_011509744.2:c.19-24787C>T | XP_011508046.1:n.19-24787C>T | |
| XM_011509746.2:c.92-171C>T | XP_011508048.1:n.92-171C>T | |
| XM_017001726.1:c.403-24787C>T | XP_016857215.1:n.403-24787C>T | |
| XM_017001728.1:c.170-171C>T | XP_016857217.1:n.170-171C>T | |
| XM_017001729.1:c.92-171C>T | XP_016857218.1:n.92-171C>T | |
| XM_017001730.1:c.24+13615C>T | XP_016857219.1:n.24+13615C>T | |
| XM_017001731.1:c.24+13615C>T | XP_016857220.1:n.24+13615C>T | |
| XM_017001732.1:c.92-171C>T | XP_016857221.1:n.92-171C>T | |
| XM_017001733.1:c.-30-24787C>T | XP_016857222.1:n.-30-24787C>T | |
| XM_017001734.1:c.24+13615C>T | XP_016857223.1:n.24+13615C>T | |
| XM_017001735.1:c.92-171C>T | XP_016857224.1:n.92-171C>T | |
| XM_017001736.1:c.-98-171C>T | XP_016857225.1:n.-98-171C>T | |
| XM_017001737.1:c.92-171C>T | XP_016857226.1:n.92-171C>T | |
| XM_017001738.1:c.92-171C>T | XP_016857227.1:n.92-171C>T | |
| XM_017001739.1:c.-103-171C>T | XP_016857228.1:n.-103-171C>T | |
| XM_017001740.1:c.-103-171C>T | XP_016857229.1:n.-103-171C>T | |
| XM_017001741.1:c.-36+13615C>T | XP_016857230.1:n.-36+13615C>T | |
| XM_017001742.1:c.-35-24787C>T | XP_016857231.1:n.-35-24787C>T | |
| XM_017001743.1:c.-35-24787C>T | XP_016857232.1:n.-35-24787C>T | |
| XM_017001744.1:c.-35-24787C>T | XP_016857233.1:n.-35-24787C>T | |
| NM_018194.6:c.92-171C>T MANE Select | NP_060664.2:n.92-171C>T | |
| NM_001170580.3:c.92-171C>T | NP_001164051.1:n.92-171C>T | |
| NM_001122834.4:c.92-171C>T | NP_001116306.1:n.92-171C>T | |
| NM_001170564.3:c.92-171C>T | NP_001164035.1:n.92-171C>T | |
| NM_001170587.3:c.95-171C>T | NP_001164058.1:n.95-171C>T | |
| NM_001170588.3:c.92-171C>T | NP_001164059.1:n.92-171C>T |