gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61244843 (EAS)
Genomes Max Group AF
0.61244843 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38120214T>G , CM000670.2:g.38120214T>G | GRCh38 |
| NC_000008.10:g.37977732T>G , CM000670.1:g.37977732T>G | GRCh37 |
| NC_000008.9:g.38096889T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343823.11:c.948-718T>G MANE Select | ENSP00000340896.5:n.948-718T>G | |
| ENST00000343823.10:c.948-718T>G | ENSP00000340896.5:n.948-718T>G | |
| ENST00000428278.6:c.666-718T>G | ENSP00000395310.2:n.666-718T>G | |
| ENST00000517496.5:c.*436-718T>G | ENSP00000430889.1:n.*436-718T>G | |
| ENST00000518186.1:n.270-718T>G | ||
| ENST00000521652.5:c.666-718T>G | ENSP00000430259.1:n.666-718T>G | |
| ENST00000545394.2:c.531-718T>G | ENSP00000443606.1:n.531-718T>G | |
| NM_001105214.2:c.666-718T>G | NP_001098684.1:n.666-718T>G | |
| NM_001261832.1:c.666-718T>G | NP_001248761.1:n.666-718T>G | |
| NM_001282272.1:c.531-718T>G | NP_001269201.1:n.531-718T>G | |
| NM_004674.4:c.948-718T>G | NP_004665.2:n.948-718T>G | |
| XM_005273682.1:c.966-718T>G | XP_005273739.1:n.966-718T>G | |
| XM_005273683.1:c.684-718T>G | XP_005273740.1:n.684-718T>G | |
| XM_006716412.1:c.966-718T>G | XP_006716475.1:n.966-718T>G | |
| XM_006716413.1:c.948-718T>G | XP_006716476.1:n.948-718T>G | |
| XM_006716413.3:c.948-718T>G | XP_006716476.1:n.948-718T>G | |
| NM_004674.5:c.948-718T>G MANE Select | NP_004665.2:n.948-718T>G |