gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42766580G>T , CM000663.2:g.42766580G>T | GRCh38 |
| NC_000001.10:g.43232251G>T , CM000663.1:g.43232251G>T | GRCh37 |
| NC_000001.9:g.43004838G>T | NCBI36 |
| NG_008123.1:g.5505C>A , LRG_5:g.5505C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296388.10:c.392C>A MANE Select | ENSP00000296388.5:p.Ser131Ter | |
| ENST00000236040.8:c.392C>A | ENSP00000236040.4:p.Ser131Ter | |
| ENST00000296388.9:c.392C>A | ENSP00000296388.5:p.Ser131Ter | |
| ENST00000372526.2:c.392C>A | ENSP00000361604.2:p.Ser131Ter | |
| ENST00000397054.7:c.392C>A | ENSP00000380245.3:p.Ser131Ter | |
| ENST00000460031.5:n.410C>A | ||
| ENST00000492956.1:n.438C>A | ||
| ENST00000495874.5:n.443C>A | ||
| NM_001146289.1:c.392C>A , LRG_5t2:c.392C>A | NP_001139761.1:p.Ser131Ter | |
| NM_001243246.1:c.392C>A , LRG_5t3:c.392C>A | NP_001230175.1:p.Ser131Ter | |
| NM_022356.3:c.392C>A , LRG_5t1:c.392C>A | NP_071751.3:p.Ser131Ter | |
| XR_946739.1:n.449C>A | ||
| XM_017002051.2:c.-639C>A | XP_016857540.1:n.-639C>A | |
| XM_017002052.2:c.-639C>A | XP_016857541.1:n.-639C>A | |
| XR_946739.2:n.449C>A | ||
| NM_022356.4:c.392C>A MANE Select | NP_071751.3:p.Ser131Ter | |
| NM_001146289.2:c.392C>A | NP_001139761.1:p.Ser131Ter | |
| NM_001243246.2:c.392C>A | NP_001230175.1:p.Ser131Ter |