Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65246324G= , CM000674.2:g.65246324G= | GRCh38 |
| NC_000012.11:g.65640104G= , CM000674.1:g.65640104G= | GRCh37 |
| NC_000012.10:g.63926371G= | NCBI36 |
| NG_016210.1:g.81754G= | |
| NG_016210.2:g.81754G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.2735G= MANE Select | ENSP00000308369.2:p.Ter912= | |
| ENST00000308330.2:c.2735G= | ENSP00000308369.2:p.Ter912= | |
| ENST00000539442.1:n.717G= | ||
| ENST00000545026.1:n.553G= | ||
| NM_001167614.1:c.2732G= | NP_001161086.1:p.Ter911= | |
| NM_014319.4:c.2735G= | NP_055134.2:p.Ter912= | |
| NM_014319.5:c.2735G= MANE Select | NP_055134.2:p.Ter912= | |
| NM_001167614.2:c.2732G= | NP_001161086.1:p.Ter911= |