Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10630137C= , CM000679.2:g.10630137C= | GRCh38 |
| NC_000017.10:g.10533454C= , CM000679.1:g.10533454C= | GRCh37 |
| NC_000017.9:g.10474179C= | NCBI36 |
| NG_011537.1:g.32162G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002470.4:c.5517G= MANE Select | NP_002461.2:p.Lys1839= |
| ENST00000583535.6:c.5517G= MANE Select | ENSP00000464317.1:p.Lys1839= |
| NM_002470.3:c.5517G= | NP_002461.2:p.Lys1839= |
| ENST00000583535.5:c.5517G= | ENSP00000464317.1:p.Lys1839= |
| XM_011523870.1:c.5517G= | XP_011522172.1:p.Lys1839= |
| XM_011523870.3:c.5517G= | XP_011522172.1:p.Lys1839= |
| XM_011523871.1:c.5517G= | XP_011522173.1:p.Lys1839= |
| XM_011523871.2:c.5517G= | XP_011522173.1:p.Lys1839= |