Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50189878C= , CM000679.2:g.50189878C= | GRCh38 |
| NC_000017.10:g.48267239C= , CM000679.1:g.48267239C= | GRCh37 |
| NC_000017.9:g.45622238C= | NCBI36 |
| NG_007400.1:g.16762G= , LRG_1:g.16762G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000088.4:c.2594G= MANE Select | NP_000079.2:p.Arg865= |
| ENST00000225964.10:c.2594G= MANE Select | ENSP00000225964.6:p.Arg865= |
| NM_000088.3:c.2594G= , LRG_1t1:c.2594G= | NP_000079.2:p.Arg865= |
| ENST00000225964.9:c.2594G= | ENSP00000225964.5:p.Arg865= |
| XM_005257058.3:c.2594G= | XP_005257115.2:p.Arg865= |
| XM_005257058.4:c.2594G= | XP_005257115.2:p.Arg865= |
| XM_005257059.3:c.1676G= | XP_005257116.2:p.Arg559= |
| XM_005257059.4:c.1676G= | XP_005257116.2:p.Arg559= |
| XM_011524341.1:c.2396G= | XP_011522643.1:p.Arg799= |