Linked Data
dbSNP Id:
rs975731234
gnomAD v2:
7-45108220-C-T
gnomAD v3:
7-45068621-C-T
gnomAD v4:
7-45068621-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.45068621C>T , CM000669.2:g.45068621C>T | GRCh38 |
| NC_000007.13:g.45108220C>T , CM000669.1:g.45108220C>T | GRCh37 |
| NC_000007.12:g.45074745C>T | NCBI36 |
| NG_016295.1:g.73434C>T , LRG_664:g.73434C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258781.11:c.609+42C>T MANE Select | ENSP00000258781.7:n.609+42C>T | |
| ENST00000648329.1:c.609+42C>T | ENSP00000496916.1:n.609+42C>T | |
| ENST00000258781.10:c.609+42C>T | ENSP00000258781.6:n.609+42C>T | |
| ENST00000381112.7:c.672+42C>T | ENSP00000370503.3:n.672+42C>T | |
| ENST00000461377.5:n.962+42C>T | ||
| ENST00000472223.5:n.676+42C>T | ||
| ENST00000474617.1:c.454+3975C>T | ENSP00000419474.1:n.454+3975C>T | |
| ENST00000475551.5:c.591+42C>T | ENSP00000417180.1:n.591+42C>T | |
| ENST00000477605.1:n.944+42C>T | ||
| ENST00000478582.5:n.684-1205C>T | ||
| ENST00000480382.1:c.86+42C>T | ||
| ENST00000480658.5:n.437+42C>T | ||
| ENST00000481194.1:n.45-1205C>T | ||
| ENST00000482714.5:n.531+42C>T | ||
| ENST00000488727.5:c.609+42C>T | ENSP00000417251.1:n.609+42C>T | |
| ENST00000492883.5:n.485-1205C>T | ||
| ENST00000541586.5:c.435+42C>T | ENSP00000444725.1:n.435+42C>T | |
| ENST00000544363.5:c.472+3975C>T | ENSP00000438035.1:n.472+3975C>T | |
| NM_001029835.2:c.672+42C>T , LRG_664t1:c.672+42C>T | NP_001025006.1:n.672+42C>T | |
| NM_001167934.1:c.435+42C>T | NP_001161406.1:n.435+42C>T | |
| NM_001167935.1:c.472+3975C>T | NP_001161407.1:n.472+3975C>T | |
| NM_031443.3:c.609+42C>T , LRG_664t2:c.609+42C>T | NP_113631.1:n.609+42C>T | |
| NR_030770.1:n.691+42C>T | ||
| XM_006715785.2:c.498+42C>T | XP_006715848.1:n.498+42C>T | |
| XM_006715786.2:c.535+3975C>T | XP_006715849.1:n.535+3975C>T | |
| XM_011515561.1:c.672+42C>T | XP_011513863.1:n.672+42C>T | |
| XM_011515562.1:c.609+42C>T | XP_011513864.1:n.609+42C>T | |
| XM_011515563.1:c.498+42C>T | XP_011513865.1:n.498+42C>T | |
| XM_011515564.1:c.435+42C>T | XP_011513866.1:n.435+42C>T | |
| XR_428088.2:n.685+42C>T | ||
| NM_001363458.1:c.609+42C>T | NP_001350387.1:n.609+42C>T | |
| NM_001363459.1:c.435+42C>T | NP_001350388.1:n.435+42C>T | |
| XM_006715785.4:c.498+42C>T | XP_006715848.1:n.498+42C>T | |
| XM_006715786.3:c.535+3975C>T | XP_006715849.1:n.535+3975C>T | |
| XM_011515561.2:c.672+42C>T | XP_011513863.1:n.672+42C>T | |
| XM_011515563.3:c.498+42C>T | XP_011513865.1:n.498+42C>T | |
| XM_017012671.1:c.672+42C>T | XP_016868160.1:n.672+42C>T | |
| XM_017012672.2:c.498+42C>T | XP_016868161.1:n.498+42C>T | |
| XM_017012673.1:c.435+42C>T | XP_016868162.1:n.435+42C>T | |
| XR_428088.3:n.705+42C>T | ||
| NM_001363458.2:c.609+42C>T | NP_001350387.1:n.609+42C>T | |
| NM_001363459.2:c.435+42C>T | NP_001350388.1:n.435+42C>T | |
| NM_031443.4:c.609+42C>T MANE Select | NP_113631.1:n.609+42C>T | |
| NR_030770.2:n.691+42C>T | ||
| NM_001167934.2:c.435+42C>T | NP_001161406.1:n.435+42C>T | |
| NM_001167935.2:c.472+3975C>T | NP_001161407.1:n.472+3975C>T |