Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3927437G= , CM000681.2:g.3927437G= | GRCh38 |
| NC_000019.9:g.3927435G= , CM000681.1:g.3927435G= | GRCh37 |
| NC_000019.8:g.3878435G= | NCBI36 |
| NG_012638.1:g.51818G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033064.5:c.*2845G= MANE Select | NP_149053.1:n.*2845G= |
| ENST00000450849.7:c.*2845G= MANE Select | ENSP00000390941.1:n.*2845G= |
| NM_033064.4:c.*2845G= | NP_149053.1:n.*2845G= |
| ENST00000450849.6:c.*2845G= | ENSP00000390941.1:n.*2845G= |