Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10656409T>A , CM000682.2:g.10656409T>A | GRCh38 |
| NC_000020.10:g.10637057T>A , CM000682.1:g.10637057T>A | GRCh37 |
| NC_000020.9:g.10585057T>A | NCBI36 |
| NG_007496.1:g.22638A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.744A>T MANE Select | NP_000205.1:p.Pro248= |
| ENST00000254958.10:c.744A>T MANE Select | ENSP00000254958.4:p.Pro248= |
| NM_000214.2:c.744A>T | NP_000205.1:p.Pro248= |
| ENST00000254958.9:c.744A>T | ENSP00000254958.4:p.Pro248= |
| ENST00000423891.6:n.610A>T |