Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1075747C= , CM000673.2:g.1075747C= | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361558.7:n.200C= | ||
| ENST00000675028.1:c.173C= | ENSP00000502432.1:p.Pro58= | |
| NM_002457.3:c.173C= | NP_002448.3:p.Pro58= |