Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.112068338A>C , CM000675.2:g.112068338A>C | GRCh38 |
| NC_000013.10:g.112722652A>C , CM000675.1:g.112722652A>C | GRCh37 |
| NC_000013.9:g.111770653A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005986.3:c.680A>C (SOX1) MANE Select | NP_005977.2:p.His227Pro |
| ENST00000330949.3:c.680A>C (SOX1) MANE Select | ENSP00000330218.1:p.His227Pro |
| NM_005986.2:c.680A>C (SOX1) | NP_005977.2:p.His227Pro |
| NR_120392.1:n.85-27137A>C (SOX1-OT) | |
| ENST00000330949.2:c.680A>C (SOX1) | ENSP00000330218.1:p.His227Pro |