Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176967C= , CM000678.2:g.176967C= | GRCh38 |
| NC_000016.9:g.226966C= , CM000678.1:g.226966C= | GRCh37 |
| NC_000016.8:g.166966C= | NCBI36 |
| NG_000006.1:g.37830C= | |
| NG_059186.1:g.5317C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000558.5:c.134C= MANE Select | NP_000549.1:p.Pro45= |
| ENST00000320868.9:c.134C= MANE Select | ENSP00000322421.5:p.Pro45= |
| NM_000558.4:c.134C= | NP_000549.1:p.Pro45= |
| ENST00000397797.1:c.38C= | ENSP00000380899.1:p.Pro13= |
| ENST00000472694.1:n.270C= | |
| ENST00000487791.1:n.103C= |