Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.22172269T>A , CM000680.2:g.22172269T>A | GRCh38 |
| NC_000018.9:g.19752230T>A , CM000680.1:g.19752230T>A | GRCh37 |
| NC_000018.8:g.18006228T>A | NCBI36 |
| NG_032677.1:g.7827T>A | |
| NG_032677.2:g.7833T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005257.6:c.1125T>A MANE Select | NP_005248.2:p.Gly375= |
| ENST00000269216.10:c.1125T>A MANE Select | ENSP00000269216.3:p.Gly375= |
| NM_005257.5:c.1125T>A | NP_005248.2:p.Gly375= |
| ENST00000269216.7:c.1125T>A | ENSP00000269216.3:p.Gly375= |
| ENST00000581694.1:c.1125T>A | ENSP00000462313.1:p.Gly375= |