Linked Data
dbSNP Id:
rs73152889
gnomAD v2:
3-143425979-C-T
gnomAD v3:
3-143707137-C-T
gnomAD v4:
3-143707137-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.143707137C>T , CM000665.2:g.143707137C>T | GRCh38 |
| NC_000003.11:g.143425979C>T , CM000665.1:g.143425979C>T | GRCh37 |
| NC_000003.10:g.144908669C>T | NCBI36 |
| NG_017077.1:g.146395G>A | |
| NG_017077.2:g.146395G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316549.11:c.534-13830G>A MANE Select | ENSP00000320246.6:n.534-13830G>A | |
| ENST00000316549.10:c.534-13830G>A | ENSP00000320246.6:n.534-13830G>A | |
| ENST00000474727.2:c.*145-13830G>A | ENSP00000419090.2:n.*145-13830G>A | |
| NM_173653.3:c.534-13830G>A | NP_775924.1:n.534-13830G>A | |
| XM_011512704.1:c.534-13830G>A | XP_011511006.1:n.534-13830G>A | |
| XM_011512704.3:c.534-13830G>A | XP_011511006.1:n.534-13830G>A | |
| XM_017006202.2:c.534-13830G>A | XP_016861691.1:n.534-13830G>A | |
| XM_017006203.1:c.183-13830G>A | XP_016861692.1:n.183-13830G>A | |
| NM_173653.4:c.534-13830G>A MANE Select | NP_775924.1:n.534-13830G>A |