Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23867942G>A , CM000663.2:g.23867942G>A | GRCh38 |
| NC_000001.10:g.24194432G>A , CM000663.1:g.24194432G>A | GRCh37 |
| NC_000001.9:g.24067019G>A | NCBI36 |
| NG_013346.1:g.5428C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000147.5:c.345C>T MANE Select | NP_000138.2:p.Phe115= |
| ENST00000374479.4:c.345C>T MANE Select | ENSP00000363603.3:p.Phe115= |
| NM_000147.4:c.345C>T | NP_000138.2:p.Phe115= |
| NR_174379.1:n.349C>T | |
| NR_174380.1:n.349C>T | |
| NR_174381.1:n.349C>T | |
| NR_174382.1:n.349C>T | |
| ENST00000374479.3:c.345C>T | ENSP00000363603.3:p.Phe115= |
| XM_005245821.1:c.-205C>T | XP_005245878.1:n.-205C>T |
| XM_005245821.3:c.-205C>T | XP_005245878.1:n.-205C>T |