Linked Data
dbSNP Id:
rs189307848
gnomAD v2:
15-91565559-G-A
gnomAD v3:
15-91022329-G-A
gnomAD v4:
15-91022329-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.91022329G>A , CM000677.2:g.91022329G>A | GRCh38 |
| NC_000015.9:g.91565559G>A , CM000677.1:g.91565559G>A | GRCh37 |
| NC_000015.8:g.89366563G>A | NCBI36 |
| NG_012162.1:g.5275C>T , LRG_884:g.5275C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333371.8:c.-80C>T MANE Select | ENSP00000327650.4:n.-80C>T | |
| ENST00000643536.1:c.-80C>T | ENSP00000494429.1:n.-80C>T | |
| ENST00000333371.7:c.-80C>T | ENSP00000327650.3:n.-80C>T | |
| ENST00000535906.1:c.-80C>T | ENSP00000444053.1:n.-80C>T | |
| ENST00000556096.6:n.275C>T | ||
| ENST00000557358.1:n.268C>T | ||
| ENST00000574755.5:c.-80C>T | ENSP00000460413.1:n.-80C>T | |
| NM_001289148.1:c.-80C>T | NP_001276077.1:n.-80C>T | |
| NM_001289149.1:c.-291C>T | NP_001276078.1:n.-291C>T | |
| NM_018668.4:c.-80C>T , LRG_884t1:c.-80C>T | NP_061138.3:n.-80C>T | |
| XM_005254884.2:c.-80C>T | XP_005254941.1:n.-80C>T | |
| XM_005254887.1:c.-210C>T | XP_005254944.1:n.-210C>T | |
| XM_005254888.2:c.-80C>T | XP_005254945.1:n.-80C>T | |
| XM_011521448.1:c.-393C>T | XP_011519750.1:n.-393C>T | |
| XM_017022075.2:c.-441C>T | XP_016877564.1:n.-441C>T | |
| XM_017022076.1:c.-298C>T | XP_016877565.1:n.-298C>T | |
| XR_001751213.2:n.257C>T | ||
| NM_018668.5:c.-80C>T MANE Select | NP_061138.3:n.-80C>T |