Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.146544074A>C , CM000668.2:g.146544074A>C | GRCh38 |
| NC_000006.11:g.146865210A>C , CM000668.1:g.146865210A>C | GRCh37 |
| NC_000006.10:g.146906903A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367495.4:c.203A>C MANE Select | ENSP00000356465.3:p.Asn68Thr | |
| ENST00000367495.3:c.203A>C | ENSP00000356465.3:p.Asn68Thr | |
| NM_006834.3:c.203A>C | NP_006825.1:p.Asn68Thr | |
| NM_006834.4:c.203A>C | NP_006825.1:p.Asn68Thr | |
| NM_006834.5:c.203A>C MANE Select | NP_006825.1:p.Asn68Thr |