Linked Data
dbSNP Id:
rs923054637
gnomAD v2:
3-143504541-G-A
gnomAD v3:
3-143785699-G-A
gnomAD v4:
3-143785699-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.143785699G>A , CM000665.2:g.143785699G>A | GRCh38 |
| NC_000003.11:g.143504541G>A , CM000665.1:g.143504541G>A | GRCh37 |
| NC_000003.10:g.144987231G>A | NCBI36 |
| NG_017077.1:g.67833C>T | |
| NG_017077.2:g.67833C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000316549.11:c.533+9302C>T MANE Select | ENSP00000320246.6:n.533+9302C>T | |
| ENST00000316549.10:c.533+9302C>T | ENSP00000320246.6:n.533+9302C>T | |
| ENST00000474727.2:c.*144+9302C>T | ENSP00000419090.2:n.*144+9302C>T | |
| NM_173653.3:c.533+9302C>T | NP_775924.1:n.533+9302C>T | |
| XM_011512704.1:c.533+9302C>T | XP_011511006.1:n.533+9302C>T | |
| XM_011512704.3:c.533+9302C>T | XP_011511006.1:n.533+9302C>T | |
| XM_017006202.2:c.533+9302C>T | XP_016861691.1:n.533+9302C>T | |
| XM_017006203.1:c.182+9302C>T | XP_016861692.1:n.182+9302C>T | |
| NM_173653.4:c.533+9302C>T MANE Select | NP_775924.1:n.533+9302C>T |