Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.59231737C= , CM000677.2:g.59231737C= | GRCh38 |
| NC_000015.9:g.59523936C= , CM000677.1:g.59523936C= | GRCh37 |
| NC_000015.8:g.57311228C= | NCBI36 |
| NG_031999.1:g.146136G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288235.9:c.475G= MANE Select | ENSP00000288235.4:p.Ala159= | |
| ENST00000288235.8:c.475G= | ENSP00000288235.4:p.Ala159= | |
| ENST00000558571.1:c.*48G= | ENSP00000453811.1:n.*48G= | |
| ENST00000558814.1:n.333G= | ||
| NM_004998.3:c.475G= | NP_004989.2:p.Ala159= | |
| NM_004998.4:c.475G= MANE Select | NP_004989.2:p.Ala159= |