Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.22171677C>T , CM000680.2:g.22171677C>T | GRCh38 |
| NC_000018.9:g.19751638C>T , CM000680.1:g.19751638C>T | GRCh37 |
| NC_000018.8:g.18005636C>T | NCBI36 |
| NG_032677.1:g.7235C>T | |
| NG_032677.2:g.7241C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005257.6:c.533C>T MANE Select | NP_005248.2:p.Ala178Val |
| ENST00000269216.10:c.533C>T MANE Select | ENSP00000269216.3:p.Ala178Val |
| NM_005257.5:c.533C>T | NP_005248.2:p.Ala178Val |
| ENST00000269216.7:c.533C>T | ENSP00000269216.3:p.Ala178Val |
| ENST00000581694.1:c.533C>T | ENSP00000462313.1:p.Ala178Val |