Linked Data
dbSNP Id:
rs7645841
gnomAD v2:
3-143443103-C-A
gnomAD v3:
3-143724261-C-A
gnomAD v4:
3-143724261-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.143724261C>A , CM000665.2:g.143724261C>A | GRCh38 |
| NC_000003.11:g.143443103C>A , CM000665.1:g.143443103C>A | GRCh37 |
| NC_000003.10:g.144925793C>A | NCBI36 |
| NG_017077.1:g.129271G>T | |
| NG_017077.2:g.129271G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000316549.11:c.534-30954G>T MANE Select | ENSP00000320246.6:n.534-30954G>T | |
| ENST00000316549.10:c.534-30954G>T | ENSP00000320246.6:n.534-30954G>T | |
| ENST00000474727.2:c.*145-30954G>T | ENSP00000419090.2:n.*145-30954G>T | |
| NM_173653.3:c.534-30954G>T | NP_775924.1:n.534-30954G>T | |
| XM_011512704.1:c.534-30954G>T | XP_011511006.1:n.534-30954G>T | |
| XM_011512704.3:c.534-30954G>T | XP_011511006.1:n.534-30954G>T | |
| XM_017006202.2:c.534-30954G>T | XP_016861691.1:n.534-30954G>T | |
| XM_017006203.1:c.183-30954G>T | XP_016861692.1:n.183-30954G>T | |
| NM_173653.4:c.534-30954G>T MANE Select | NP_775924.1:n.534-30954G>T |