Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32220627C>A , CM000668.2:g.32220627C>A | GRCh38 |
| NC_000006.11:g.32188404C>A , CM000668.1:g.32188404C>A | GRCh37 |
| NC_000006.10:g.32296382C>A | NCBI36 |
| NG_028190.1:g.8441G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375023.3:c.937G>T MANE Select | ENSP00000364163.3:p.Glu313Ter | |
| ENST00000473562.1:n.1066G>T | ||
| NM_004557.3:c.937G>T | NP_004548.3:p.Glu313Ter | |
| NR_134949.1:n.1076G>T | ||
| NR_134950.1:n.1076G>T | ||
| NM_004557.4:c.937G>T MANE Select | NP_004548.3:p.Glu313Ter | |
| NR_134949.2:n.1076G>T | ||
| NR_134950.2:n.1076G>T |