Linked Data
dbSNP Id:
rs75739980
gnomAD v2:
4-13597762-G-A
gnomAD v3:
4-13596138-G-A
gnomAD v4:
4-13596138-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.13596138G>A , CM000666.2:g.13596138G>A | GRCh38 |
| NC_000004.11:g.13597762G>A , CM000666.1:g.13597762G>A | GRCh37 |
| NC_000004.10:g.13206860G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507943.2:c.8020-194C>T | ENSP00000425492.2:n.8020-194C>T | |
| ENST00000040738.10:c.8020-194C>T MANE Select | ENSP00000040738.5:n.8020-194C>T | |
| ENST00000040738.9:c.8020-194C>T | ENSP00000040738.5:n.8020-194C>T | |
| NM_148894.2:c.8020-194C>T | NP_683692.2:n.8020-194C>T | |
| XM_005248150.2:c.8020-194C>T | XP_005248207.1:n.8020-194C>T | |
| XM_005248151.2:c.8020-194C>T | XP_005248208.1:n.8020-194C>T | |
| XM_006713958.2:c.8020-194C>T | XP_006714021.1:n.8020-194C>T | |
| XM_011513827.1:c.8020-194C>T | XP_011512129.1:n.8020-194C>T | |
| XM_011513828.1:c.8020-194C>T | XP_011512130.1:n.8020-194C>T | |
| XM_011513829.1:c.8020-194C>T | XP_011512131.1:n.8020-194C>T | |
| XM_011513830.1:c.7417-194C>T | XP_011512132.1:n.7417-194C>T | |
| XM_005248150.3:c.8020-194C>T | XP_005248207.1:n.8020-194C>T | |
| XM_005248151.3:c.8020-194C>T | XP_005248208.1:n.8020-194C>T | |
| XM_006713958.3:c.8020-194C>T | XP_006714021.1:n.8020-194C>T | |
| XM_011513827.2:c.8020-194C>T | XP_011512129.1:n.8020-194C>T | |
| XM_011513829.2:c.8020-194C>T | XP_011512131.1:n.8020-194C>T | |
| XM_011513830.3:c.7417-194C>T | XP_011512132.1:n.7417-194C>T | |
| XM_017008009.1:c.8020-194C>T | XP_016863498.1:n.8020-194C>T | |
| XM_017008010.1:c.8020-194C>T | XP_016863499.1:n.8020-194C>T | |
| NM_148894.3:c.8020-194C>T MANE Select | NP_683692.2:n.8020-194C>T |