gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.87300993 (SAS)
Genomes Max Group AF
0.87300993 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.60772552A>C , CM000677.2:g.60772552A>C | GRCh38 |
| NC_000015.9:g.61064751A>C , CM000677.1:g.61064751A>C | GRCh37 |
| NC_000015.8:g.58852043A>C | NCBI36 |
| NG_029246.1:g.461752T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335670.11:c.167-93866T>G MANE Select | ENSP00000335087.6:n.167-93866T>G | |
| ENST00000335670.10:c.167-93866T>G | ENSP00000335087.6:n.167-93866T>G | |
| ENST00000551975.5:c.82-93866T>G | ||
| ENST00000557822.5:n.192-93866T>G | ||
| ENST00000559145.1:n.174-93866T>G | ||
| ENST00000561093.1:n.180-93866T>G | ||
| NM_134261.2:c.167-93866T>G | NP_599023.1:n.167-93866T>G | |
| XM_005254584.3:c.28+68518T>G | XP_005254641.1:n.28+68518T>G | |
| XM_011521876.1:c.35-93866T>G | XP_011520178.1:n.35-93866T>G | |
| XM_011521878.1:c.-327-93866T>G | XP_011520180.1:n.-327-93866T>G | |
| XM_005254584.5:c.28+68518T>G | XP_005254641.1:n.28+68518T>G | |
| XM_011521878.2:c.-327-93866T>G | XP_011520180.1:n.-327-93866T>G | |
| NM_134261.3:c.167-93866T>G MANE Select | NP_599023.1:n.167-93866T>G |