Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177003A= , CM000678.2:g.177003A= | GRCh38 |
| NC_000016.9:g.227002A= , CM000678.1:g.227002A= | GRCh37 |
| NC_000016.8:g.167002A= | NCBI36 |
| NG_000006.1:g.37866A= | |
| NG_059186.1:g.5353A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.170A= MANE Select | ENSP00000322421.5:p.Lys57= | |
| ENST00000397797.1:c.74A= | ENSP00000380899.1:p.Lys25= | |
| ENST00000472694.1:n.306A= | ||
| ENST00000487791.1:n.139A= | ||
| NM_000558.4:c.170A= | NP_000549.1:p.Lys57= | |
| NM_000558.5:c.170A= MANE Select | NP_000549.1:p.Lys57= |