Linked Data
dbSNP Id:
rs17788084
gnomAD v2:
8-97622948-A-T
gnomAD v3:
8-96610720-A-T
gnomAD v4:
8-96610720-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96610720A>T , CM000670.2:g.96610720A>T | GRCh38 |
| NC_000008.10:g.97622948A>T , CM000670.1:g.97622948A>T | GRCh37 |
| NC_000008.9:g.97692124A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302190.9:c.*1172A>T MANE Select | ENSP00000307046.4:n.*1172A>T | |
| ENST00000302190.8:c.*1172A>T | ENSP00000307046.4:n.*1172A>T | |
| NM_002998.3:c.*1172A>T | NP_002989.2:n.*1172A>T | |
| XM_005251019.3:c.*1172A>T | XP_005251076.1:n.*1172A>T | |
| XM_005251020.2:c.*1172A>T | XP_005251077.1:n.*1172A>T | |
| XM_006716614.2:c.*1172A>T | XP_006716677.2:n.*1172A>T | |
| XM_011517211.1:c.*1172A>T | XP_011515513.1:n.*1172A>T | |
| XM_011517212.1:c.*1172A>T | XP_011515514.1:n.*1172A>T | |
| XM_011517212.3:c.*1172A>T | XP_011515514.1:n.*1172A>T | |
| XM_024447228.1:c.*1172A>T | XP_024302996.1:n.*1172A>T | |
| NM_002998.4:c.*1172A>T MANE Select | NP_002989.2:n.*1172A>T |