Linked Data
dbSNP Id:
rs2800
gnomAD v2:
3-143424822-C-T
gnomAD v3:
3-143705980-C-T
gnomAD v4:
3-143705980-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.143705980C>T , CM000665.2:g.143705980C>T | GRCh38 |
| NC_000003.11:g.143424822C>T , CM000665.1:g.143424822C>T | GRCh37 |
| NC_000003.10:g.144907512C>T | NCBI36 |
| NG_017077.1:g.147552G>A | |
| NG_017077.2:g.147552G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000316549.11:c.534-12673G>A MANE Select | ENSP00000320246.6:n.534-12673G>A | |
| ENST00000316549.10:c.534-12673G>A | ENSP00000320246.6:n.534-12673G>A | |
| ENST00000474727.2:c.*145-12673G>A | ENSP00000419090.2:n.*145-12673G>A | |
| NM_173653.3:c.534-12673G>A | NP_775924.1:n.534-12673G>A | |
| XM_011512704.1:c.534-12673G>A | XP_011511006.1:n.534-12673G>A | |
| XM_011512704.3:c.534-12673G>A | XP_011511006.1:n.534-12673G>A | |
| XM_017006202.2:c.534-12673G>A | XP_016861691.1:n.534-12673G>A | |
| XM_017006203.1:c.183-12673G>A | XP_016861692.1:n.183-12673G>A | |
| NM_173653.4:c.534-12673G>A MANE Select | NP_775924.1:n.534-12673G>A |