gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00021928 (NFE)
Exomes Max Group AF
0.00023192 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80186207T>G , CM000677.2:g.80186207T>G | GRCh38 |
| NC_000015.9:g.80478549T>G , CM000677.1:g.80478549T>G | GRCh37 |
| NC_000015.8:g.78265604T>G | NCBI36 |
| NG_012833.1:g.38209T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682012.1:n.1347T>G | ||
| ENST00000561421.6:c.1258T>G MANE Select | ENSP00000453347.2:p.Ter420Gly | |
| ENST00000646551.1:n.2872T>G | ||
| ENST00000261755.9:c.1258T>G | ENSP00000261755.5:p.Ter420Gly | |
| ENST00000407106.5:c.1258T>G | ENSP00000385080.1:p.Ter420Gly | |
| ENST00000539156.5:c.1048T>G | ENSP00000454271.1:p.Ter350Gly | |
| ENST00000559217.1:n.475T>G | ||
| ENST00000561421.5:c.1258T>G | ENSP00000453347.1:p.Ter420Gly | |
| NM_000137.2:c.1258T>G | NP_000128.1:p.Ter420Gly | |
| XM_024449872.1:c.1258T>G | XP_024305640.1:p.Ter420Gly | |
| NM_000137.4:c.1258T>G MANE Select | NP_000128.1:p.Ter420Gly | |
| NM_001374377.1:c.1258T>G | NP_001361306.1:p.Ter420Gly | |
| NM_001374380.1:c.1258T>G | NP_001361309.1:p.Ter420Gly |