Linked Data
dbSNP Id:
rs922034157
gnomAD v2:
1-179530580-T-A
gnomAD v3:
1-179561445-T-A
gnomAD v4:
1-179561445-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179561445T>A , CM000663.2:g.179561445T>A | GRCh38 |
| NC_000001.10:g.179530580T>A , CM000663.1:g.179530580T>A | GRCh37 |
| NC_000001.9:g.177797203T>A | NCBI36 |
| NG_007535.1:g.19505A>T , LRG_887:g.19505A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367615.9:c.379-84A>T MANE Select | ENSP00000356587.4:n.379-84A>T | |
| ENST00000367615.8:c.379-84A>T | ENSP00000356587.4:n.379-84A>T | |
| ENST00000367616.4:c.379-84A>T | ENSP00000356588.4:n.379-84A>T | |
| NM_001297575.1:c.379-84A>T | NP_001284504.1:n.379-84A>T | |
| NM_014625.3:c.379-84A>T , LRG_887t1:c.379-84A>T | NP_055440.1:n.379-84A>T | |
| XM_005245483.2:c.275-1684A>T | XP_005245540.1:n.275-1684A>T | |
| XM_006711529.2:c.379-84A>T | XP_006711592.1:n.379-84A>T | |
| XM_005245483.3:c.275-1684A>T | XP_005245540.1:n.275-1684A>T | |
| XM_017002298.1:c.379-1684A>T | XP_016857787.1:n.379-1684A>T | |
| XM_017002299.1:c.379-84A>T | XP_016857788.1:n.379-84A>T | |
| NM_001297575.2:c.379-84A>T | NP_001284504.1:n.379-84A>T | |
| NM_014625.4:c.379-84A>T MANE Select | NP_055440.1:n.379-84A>T |