gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5563025G>A , CM000666.2:g.5563025G>A | GRCh38 |
| NC_000004.11:g.5564752G>A , CM000666.1:g.5564752G>A | GRCh37 |
| NC_000004.10:g.5615653G>A | NCBI36 |
| NG_015821.1:g.151524C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.3750C>T MANE Select | ENSP00000342144.5:p.Gly1250= | |
| ENST00000310917.6:c.3510C>T | ENSP00000311683.2:p.Gly1170= | |
| ENST00000344408.9:c.3750C>T | ENSP00000342144.5:p.Gly1250= | |
| ENST00000475313.5:c.3419+2233C>T | ENSP00000431981.1:n.3419+2233C>T | |
| ENST00000509670.1:c.*2143C>T | ENSP00000423876.1:n.*2143C>T | |
| NM_001166136.1:c.3510C>T | NP_001159608.1:p.Gly1170= | |
| NM_147127.4:c.3750C>T | NP_667338.3:p.Gly1250= | |
| XM_011513392.1:c.3759C>T | XP_011511694.1:p.Gly1253= | |
| XM_011513393.1:c.3668+2233C>T | XP_011511695.1:n.3668+2233C>T | |
| XM_011513394.1:c.3519C>T | XP_011511696.1:p.Gly1173= | |
| XM_017007736.1:c.3510C>T | XP_016863225.1:p.Gly1170= | |
| XM_017007737.1:c.3510C>T | XP_016863226.1:p.Gly1170= | |
| XM_017007739.1:c.2070C>T | XP_016863228.1:p.Gly690= | |
| XM_024453893.1:c.2070C>T | XP_024309661.1:p.Gly690= | |
| XR_001741141.1:n.3600C>T | ||
| NM_147127.5:c.3750C>T MANE Select | NP_667338.3:p.Gly1250= | |
| NM_001166136.2:c.3510C>T | NP_001159608.1:p.Gly1170= |