Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10629696C>T , CM000679.2:g.10629696C>T | GRCh38 |
| NC_000017.10:g.10533013C>T , CM000679.1:g.10533013C>T | GRCh37 |
| NC_000017.9:g.10473738C>T | NCBI36 |
| NG_011537.1:g.32603G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000583535.6:c.5697G>A MANE Select | ENSP00000464317.1:p.Lys1899= | |
| ENST00000577963.1:n.239G>A | ||
| ENST00000579928.2:n.227G>A | ||
| ENST00000583535.5:c.5697G>A | ENSP00000464317.1:p.Lys1899= | |
| NM_002470.3:c.5697G>A | NP_002461.2:p.Lys1899= | |
| XM_011523870.1:c.5697G>A | XP_011522172.1:p.Lys1899= | |
| XM_011523871.1:c.5697G>A | XP_011522173.1:p.Lys1899= | |
| XM_011523870.3:c.5697G>A | XP_011522172.1:p.Lys1899= | |
| XM_011523871.2:c.5697G>A | XP_011522173.1:p.Lys1899= | |
| NM_002470.4:c.5697G>A MANE Select | NP_002461.2:p.Lys1899= |