Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.26156523A>C , CM000668.2:g.26156523A>C | GRCh38 |
| NC_000006.11:g.26156751A>C , CM000668.1:g.26156751A>C | GRCh37 |
| NC_000006.10:g.26264730A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005321.3:c.133A>C MANE Select | NP_005312.1:p.Thr45Pro |
| ENST00000304218.6:c.133A>C MANE Select | ENSP00000307705.4:p.Thr45Pro |
| NM_005321.2:c.133A>C | NP_005312.1:p.Thr45Pro |
| ENST00000304218.5:c.133A>C | ENSP00000307705.3:p.Thr45Pro |