gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3341719 (AFR)
Genomes Max Group AF
0.33291336 (AFR)
Exomes Max Group AF
0.332526 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46408373G>T , CM000665.2:g.46408373G>T | GRCh38 |
| NC_000003.11:g.46449864G>T , CM000665.1:g.46449864G>T | GRCh37 |
| NC_000003.10:g.46424868G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399036.4:c.294G>T MANE Select | ENSP00000381994.3:p.Gly98= | |
| ENST00000357392.4:c.330G>T | ENSP00000349967.4:p.Gly110= | |
| ENST00000399036.3:c.294G>T | ENSP00000381994.3:p.Gly98= | |
| ENST00000400880.3:c.294G>T | ENSP00000383677.3:p.Gly98= | |
| ENST00000400882.2:c.294G>T | ENSP00000383678.2:p.Gly98= | |
| ENST00000433848.1:c.294G>T | ENSP00000414957.1:p.Gly98= | |
| NM_001130910.1:c.330G>T | NP_001124382.1:p.Gly110= | |
| NM_003965.4:c.294G>T | NP_003956.2:p.Gly98= | |
| XM_011534208.1:c.294G>T | XP_011532510.1:p.Gly98= | |
| XM_011534209.1:c.294G>T | XP_011532511.1:p.Gly98= | |
| XM_017007436.1:c.294G>T | XP_016862925.1:p.Gly98= | |
| NM_003965.5:c.294G>T MANE Select | NP_003956.2:p.Gly98= | |
| NM_001130910.2:c.330G>T | NP_001124382.1:p.Gly110= |