Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75004851G= , CM000676.2:g.75004851G= | GRCh38 |
| NC_000014.8:g.75471554G= , CM000676.1:g.75471554G= | GRCh37 |
| NC_000014.7:g.74541307G= | NCBI36 |
| NG_013333.1:g.6943G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014239.4:c.548G= MANE Select | NP_055054.1:p.Arg183= |
| ENST00000266126.10:c.548G= MANE Select | ENSP00000266126.5:p.Arg183= |
| NM_014239.3:c.548G= | NP_055054.1:p.Arg183= |
| ENST00000266126.9:c.548G= | ENSP00000266126.5:p.Arg183= |
| ENST00000553401.5:c.521G= | ENSP00000451681.1:p.Arg174= |
| ENST00000553539.1:n.843G= | |
| ENST00000555522.1:n.606G= | |
| ENST00000556028.5:c.548G= | ENSP00000452311.1:p.Arg183= |