Linked Data
dbSNP Id:
rs16909318
gnomAD v2:
8-82445224-C-A
gnomAD v3:
8-81532989-C-A
gnomAD v4:
8-81532989-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81532989C>A , CM000670.2:g.81532989C>A | GRCh38 |
| NC_000008.10:g.82445224C>A , CM000670.1:g.82445224C>A | GRCh37 |
| NC_000008.9:g.82607779C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360464.6:c.-76+813G>T MANE Select | ENSP00000353650.4:n.-76+813G>T | |
| ENST00000360464.5:c.-76+813G>T | ENSP00000353650.4:n.-76+813G>T | |
| ENST00000692030.1:c.-58-1616G>T | ENSP00000510293.1:n.-58-1616G>T | |
| XM_005251285.3:c.-76+813G>T | XP_005251342.1:n.-76+813G>T | |
| XM_006716465.2:c.-59+813G>T | XP_006716528.1:n.-59+813G>T | |
| XM_011517575.1:c.-75-1599G>T | XP_011515877.1:n.-75-1599G>T | |
| XM_011517576.1:c.-76+94G>T | XP_011515878.1:n.-76+94G>T | |
| XM_011517577.1:c.-58-1616G>T | XP_011515879.1:n.-58-1616G>T | |
| XR_242492.2:n.556+6533C>A | ||
| NM_001105281.2:c.-76+813G>T | NP_001098751.1:n.-76+813G>T | |
| XM_006716465.3:c.-59+813G>T | XP_006716528.1:n.-59+813G>T | |
| XM_011517577.2:c.-58-1616G>T | XP_011515879.1:n.-58-1616G>T | |
| XR_001745980.1:n.819+6533C>A | ||
| XR_242492.3:n.567+6533C>A | ||
| NM_001105281.4:c.-76+813G>T | NP_001098751.1:n.-76+813G>T | |
| NM_001105281.5:c.-76+813G>T | NP_001098751.1:n.-76+813G>T |