gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000801 (AFR)
Genomes Max Group AF
0.00000801 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.60775749C>A , CM000677.2:g.60775749C>A | GRCh38 |
| NC_000015.9:g.61067948C>A , CM000677.1:g.61067948C>A | GRCh37 |
| NC_000015.8:g.58855240C>A | NCBI36 |
| NG_029246.1:g.458555G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335670.11:c.167-97063G>T MANE Select | ENSP00000335087.6:n.167-97063G>T | |
| ENST00000335670.10:c.167-97063G>T | ENSP00000335087.6:n.167-97063G>T | |
| ENST00000551975.5:c.82-97063G>T | ||
| ENST00000557822.5:n.192-97063G>T | ||
| ENST00000559145.1:n.174-97063G>T | ||
| ENST00000561093.1:n.180-97063G>T | ||
| NM_134261.2:c.167-97063G>T | NP_599023.1:n.167-97063G>T | |
| XM_005254584.3:c.28+65321G>T | XP_005254641.1:n.28+65321G>T | |
| XM_011521876.1:c.35-97063G>T | XP_011520178.1:n.35-97063G>T | |
| XM_011521878.1:c.-327-97063G>T | XP_011520180.1:n.-327-97063G>T | |
| XM_005254584.5:c.28+65321G>T | XP_005254641.1:n.28+65321G>T | |
| XM_011521878.2:c.-327-97063G>T | XP_011520180.1:n.-327-97063G>T | |
| NM_134261.3:c.167-97063G>T MANE Select | NP_599023.1:n.167-97063G>T |