Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177004G= , CM000678.2:g.177004G= | GRCh38 |
| NC_000016.9:g.227003G= , CM000678.1:g.227003G= | GRCh37 |
| NC_000016.8:g.167003G= | NCBI36 |
| NG_000006.1:g.37867G= | |
| NG_059186.1:g.5354G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.171G= MANE Select | ENSP00000322421.5:p.Lys57= | |
| ENST00000397797.1:c.75G= | ENSP00000380899.1:p.Lys25= | |
| ENST00000472694.1:n.307G= | ||
| ENST00000487791.1:n.140G= | ||
| NM_000558.4:c.171G= | NP_000549.1:p.Lys57= | |
| NM_000558.5:c.171G= MANE Select | NP_000549.1:p.Lys57= |