Linked Data
dbSNP Id:
rs1043274
gnomAD v2:
1-110042444-C-T
gnomAD v3:
1-109499822-C-T
gnomAD v4:
1-109499822-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109499822C>T , CM000663.2:g.109499822C>T | GRCh38 |
| NC_000001.10:g.110042444C>T , CM000663.1:g.110042444C>T | GRCh37 |
| NC_000001.9:g.109843967C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000420578.7:c.*3563C>T MANE Select | ENSP00000413530.2:n.*3563C>T | |
| ENST00000310611.8:c.*3955C>T | ENSP00000309324.4:n.*3955C>T | |
| ENST00000430195.2:c.*4047C>T | ENSP00000416898.2:n.*4047C>T | |
| ENST00000528785.1:c.687-2561C>T | ENSP00000434344.1:n.687-2561C>T | |
| NM_001134400.1:c.*3563C>T | NP_001127872.1:n.*3563C>T | |
| NM_001134402.1:c.*3563C>T | NP_001127874.1:n.*3563C>T | |
| NM_001134403.1:c.*3955C>T | NP_001127875.1:n.*3955C>T | |
| NM_001134404.1:c.*4047C>T | NP_001127876.1:n.*4047C>T | |
| NM_182580.2:c.*3563C>T | NP_872386.1:n.*3563C>T | |
| XM_005270775.2:c.*3563C>T | XP_005270832.1:n.*3563C>T | |
| XM_005270776.2:c.*3563C>T | XP_005270833.1:n.*3563C>T | |
| XM_005270777.2:c.*3563C>T | XP_005270834.1:n.*3563C>T | |
| XM_011541286.1:c.*3563C>T | XP_011539588.1:n.*3563C>T | |
| XM_011541287.1:c.*3563C>T | XP_011539589.1:n.*3563C>T | |
| XM_005270776.3:c.*3563C>T | XP_005270833.1:n.*3563C>T | |
| XM_011541286.2:c.*3563C>T | XP_011539588.1:n.*3563C>T | |
| XM_011541287.3:c.*3563C>T | XP_011539589.2:n.*3563C>T | |
| XM_017001079.1:c.*3563C>T | XP_016856568.1:n.*3563C>T | |
| NM_001134404.2:c.*4047C>T | NP_001127876.1:n.*4047C>T | |
| NM_001134400.2:c.*3563C>T | NP_001127872.1:n.*3563C>T | |
| NM_001134402.2:c.*3563C>T | NP_001127874.1:n.*3563C>T | |
| NM_001134403.2:c.*3955C>T | NP_001127875.1:n.*3955C>T | |
| NM_182580.3:c.*3563C>T MANE Select | NP_872386.1:n.*3563C>T |