Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594403T>C , CM000679.2:g.56594403T>C | GRCh38 |
| NC_000017.10:g.54671764T>C , CM000679.1:g.54671764T>C | GRCh37 |
| NC_000017.9:g.52026763T>C | NCBI36 |
| NG_011958.1:g.5705T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005450.6:c.180T>C MANE Select | NP_005441.1:p.Asp60= |
| ENST00000332822.6:c.180T>C MANE Select | ENSP00000328181.4:p.Asp60= |
| NM_005450.4:c.180T>C | NP_005441.1:p.Asp60= |
| ENST00000332822.4:c.180T>C | ENSP00000328181.4:p.Asp60= |