Linked Data
dbSNP Id:
rs10216189
gnomAD v2:
7-5524805-G-A
gnomAD v3:
7-5485174-G-A
gnomAD v4:
7-5485174-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5485174G>A , CM000669.2:g.5485174G>A | GRCh38 |
| NC_000007.13:g.5524805G>A , CM000669.1:g.5524805G>A | GRCh37 |
| NC_000007.12:g.5491331G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382368.8:c.2001-3243C>T MANE Select | ENSP00000371805.3:n.2001-3243C>T | |
| ENST00000382368.7:c.2001-3243C>T | ENSP00000371805.3:n.2001-3243C>T | |
| ENST00000415009.5:c.2000+6057C>T | ENSP00000415064.1:n.2000+6057C>T | |
| ENST00000453700.7:c.*169-4152C>T | ENSP00000444797.2:n.*169-4152C>T | |
| ENST00000620087.1:c.679-3243C>T | ENSP00000481397.1:n.679-3243C>T | |
| NM_024963.4:c.2001-3243C>T | NP_079239.3:n.2001-3243C>T | |
| XM_011515531.1:c.2000+6057C>T | XP_011513833.1:n.2000+6057C>T | |
| NM_001363441.1:c.2000+6057C>T | NP_001350370.1:n.2000+6057C>T | |
| NM_024963.5:c.2001-3243C>T | NP_079239.3:n.2001-3243C>T | |
| NM_001363441.2:c.2000+6057C>T | NP_001350370.1:n.2000+6057C>T | |
| NM_001367780.1:c.1701-3243C>T | NP_001354709.1:n.1701-3243C>T | |
| NM_001367781.1:c.1701-3243C>T | NP_001354710.1:n.1701-3243C>T | |
| NM_024963.6:c.2001-3243C>T MANE Select | NP_079239.3:n.2001-3243C>T |