gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003178 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00003257 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130489424A>G , CM000671.2:g.130489424A>G | GRCh38 |
| NC_000009.11:g.133364811A>G , CM000671.1:g.133364811A>G | GRCh37 |
| NC_000009.10:g.132354632A>G | NCBI36 |
| NG_011542.1:g.49718A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.930A>G MANE Select | ENSP00000253004.6:p.Lys310= | |
| ENST00000352480.9:c.930A>G | ENSP00000253004.6:p.Lys310= | |
| ENST00000372386.6:n.201A>G | ||
| ENST00000372393.7:c.930A>G | ENSP00000361469.2:p.Lys310= | |
| ENST00000372394.5:c.930A>G | ENSP00000361471.1:p.Lys310= | |
| ENST00000492400.5:n.439A>G | ||
| NM_000050.4:c.930A>G | NP_000041.2:p.Lys310= | |
| NM_054012.3:c.930A>G | NP_446464.1:p.Lys310= | |
| XM_005272200.2:c.930A>G | XP_005272257.1:p.Lys310= | |
| XM_011518705.1:c.1044A>G | XP_011517007.1:p.Lys348= | |
| XM_005272200.3:c.930A>G | XP_005272257.1:p.Lys310= | |
| XM_011518705.2:c.1044A>G | XP_011517007.1:p.Lys348= | |
| XM_017014729.1:c.1026A>G | XP_016870218.1:p.Lys342= | |
| NM_054012.4:c.930A>G MANE Select | NP_446464.1:p.Lys310= |