Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50185510A= , CM000679.2:g.50185510A= | GRCh38 |
| NC_000017.10:g.48262871A= , CM000679.1:g.48262871A= | GRCh37 |
| NC_000017.9:g.45617870A= | NCBI36 |
| NG_007400.1:g.21130T= , LRG_1:g.21130T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.4387T= MANE Select | ENSP00000225964.6:p.Phe1463= | |
| ENST00000225964.9:c.4387T= | ENSP00000225964.5:p.Phe1463= | |
| NM_000088.3:c.4387T= , LRG_1t1:c.4387T= | NP_000079.2:p.Phe1463= | |
| XM_005257058.3:c.4117T= | XP_005257115.2:p.Phe1373= | |
| XM_005257059.3:c.3469T= | XP_005257116.2:p.Phe1157= | |
| XM_011524341.1:c.4189T= | XP_011522643.1:p.Phe1397= | |
| XM_005257058.4:c.4117T= | XP_005257115.2:p.Phe1373= | |
| XM_005257059.4:c.3469T= | XP_005257116.2:p.Phe1157= | |
| NM_000088.4:c.4387T= MANE Select | NP_000079.2:p.Phe1463= |