Linked Data
dbSNP Id:
rs17522122
gnomAD v2:
14-33302882-G-T
gnomAD v3:
14-32833676-G-T
gnomAD v4:
14-32833676-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.32833676G>T , CM000676.2:g.32833676G>T | GRCh38 |
| NC_000014.8:g.33302882G>T , CM000676.1:g.33302882G>T | GRCh37 |
| NC_000014.7:g.32372633G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000280979.9:c.*3871G>T MANE Select | ENSP00000280979.4:n.*3871G>T | |
| ENST00000280979.8:c.*3871G>T | ENSP00000280979.4:n.*3871G>T | |
| XM_005268219.3:c.*3871G>T | XP_005268276.1:n.*3871G>T | |
| XM_011537378.1:c.*3871G>T | XP_011535680.1:n.*3871G>T | |
| XM_011537379.1:c.*3871G>T | XP_011535681.1:n.*3871G>T | |
| XM_011537380.1:c.*3871G>T | XP_011535682.1:n.*3871G>T | |
| XM_011537381.1:c.*3871G>T | XP_011535683.1:n.*3871G>T | |
| XM_011537382.1:c.*3871G>T | XP_011535684.1:n.*3871G>T | |
| XM_011537383.1:c.*3871G>T | XP_011535685.1:n.*3871G>T | |
| XM_017021808.2:c.*3871G>T | XP_016877297.1:n.*3871G>T | |
| NM_004274.5:c.*3871G>T MANE Select | NP_004265.3:n.*3871G>T |