Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160722431G= , CM000668.2:g.160722431G= | GRCh38 |
| NC_000006.11:g.161143463G= , CM000668.1:g.161143463G= | GRCh37 |
| NC_000006.10:g.161063453G= | NCBI36 |
| NG_016200.1:g.25239G= , LRG_571:g.25239G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297289.9:c.73G= | ENSP00000516619.1:p.Val25= | |
| ENST00000418964.2:c.1171G= | ENSP00000389424.2:p.Val391= | |
| ENST00000706906.1:c.1120G= | ENSP00000516618.1:p.Val374= | |
| ENST00000308192.14:c.1120G= MANE Select | ENSP00000308938.9:p.Val374= | |
| ENST00000297289.8:n.118G= | ||
| ENST00000308192.13:c.1120G= | ENSP00000308938.9:p.Val374= | |
| NM_000301.3:c.1120G= , LRG_571t1:c.1120G= | NP_000292.1:p.Val374= | |
| NM_000301.4:c.1120G= | NP_000292.1:p.Val374= | |
| NM_000301.5:c.1120G= MANE Select | NP_000292.1:p.Val374= |