Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94981297T>C , CM000672.2:g.94981297T>C | GRCh38 |
| NC_000010.10:g.96741054T>C , CM000672.1:g.96741054T>C | GRCh37 |
| NC_000010.9:g.96731044T>C | NCBI36 |
| NG_008385.1:g.47640T>C | |
| NG_008385.2:g.48140T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000771.4:c.1076T>C MANE Select | NP_000762.2:p.Ile359Thr |
| ENST00000260682.8:c.1076T>C MANE Select | ENSP00000260682.6:p.Ile359Thr |
| NM_000771.3:c.1076T>C | NP_000762.2:p.Ile359Thr |
| ENST00000260682.6:c.1076T>C | ENSP00000260682.6:p.Ile359Thr |
| ENST00000643112.1:c.*85T>C | ENSP00000496202.1:n.*85T>C |