gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.31644800G>T , CM000682.2:g.31644800G>T | GRCh38 |
| NC_000020.10:g.30232603G>T , CM000682.1:g.30232603G>T | GRCh37 |
| NC_000020.9:g.29696264G>T | NCBI36 |
| NG_012180.1:g.11913G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376075.4:c.412G>T MANE Select | ENSP00000365243.3:p.Glu138Ter | |
| ENST00000376075.3:c.412G>T | ENSP00000365243.3:p.Glu138Ter | |
| ENST00000490030.1:n.310G>T | ||
| NM_032609.2:c.412G>T | NP_115998.2:p.Glu138Ter | |
| XM_005260579.3:c.427G>T | XP_005260636.1:p.Glu143Ter | |
| XM_005260580.3:c.295G>T | XP_005260637.1:p.Glu99Ter | |
| XM_005260581.2:c.280G>T | XP_005260638.1:p.Glu94Ter | |
| XM_011529086.1:c.313G>T | XP_011527388.1:p.Glu105Ter | |
| XM_005260579.4:c.427G>T | XP_005260636.1:p.Glu143Ter | |
| XM_005260580.4:c.295G>T | XP_005260637.1:p.Glu99Ter | |
| XM_005260581.3:c.280G>T | XP_005260638.1:p.Glu94Ter | |
| NM_032609.3:c.412G>T MANE Select | NP_115998.2:p.Glu138Ter |