Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50185779G= , CM000679.2:g.50185779G= | GRCh38 |
| NC_000017.10:g.48263140G= , CM000679.1:g.48263140G= | GRCh37 |
| NC_000017.9:g.45618139G= | NCBI36 |
| NG_007400.1:g.20861C= , LRG_1:g.20861C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.4247C= MANE Select | ENSP00000225964.6:p.Thr1416= | |
| ENST00000225964.9:c.4247C= | ENSP00000225964.5:p.Thr1416= | |
| NM_000088.3:c.4247C= , LRG_1t1:c.4247C= | NP_000079.2:p.Thr1416= | |
| XM_005257058.3:c.3977C= | XP_005257115.2:p.Thr1326= | |
| XM_005257059.3:c.3329C= | XP_005257116.2:p.Thr1110= | |
| XM_011524341.1:c.4049C= | XP_011522643.1:p.Thr1350= | |
| XM_005257058.4:c.3977C= | XP_005257115.2:p.Thr1326= | |
| XM_005257059.4:c.3329C= | XP_005257116.2:p.Thr1110= | |
| NM_000088.4:c.4247C= MANE Select | NP_000079.2:p.Thr1416= |