Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.40354405A>C , CM000666.2:g.40354405A>C | GRCh38 |
| NC_000004.11:g.40356422A>C , CM000666.1:g.40356422A>C | GRCh37 |
| NC_000004.10:g.40051179A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017581.4:c.1325A>C MANE Select | NP_060051.2:p.Asn442Thr |
| ENST00000310169.3:c.1325A>C MANE Select | ENSP00000312663.2:p.Asn442Thr |
| NM_017581.3:c.1325A>C | NP_060051.2:p.Asn442Thr |
| ENST00000310169.2:c.1325A>C | ENSP00000312663.2:p.Asn442Thr |