Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001910C= , CM000663.2:g.94001910C= | GRCh38 |
| NC_000001.10:g.94467466C= , CM000663.1:g.94467466C= | GRCh37 |
| NC_000001.9:g.94240054C= | NCBI36 |
| NG_009073.1:g.124240G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6230G= MANE Select | ENSP00000359245.3:p.Arg2077= | |
| ENST00000370225.3:c.6230G= | ENSP00000359245.3:p.Arg2077= | |
| ENST00000465352.1:n.646G= | ||
| ENST00000536513.5:c.2606G= | ENSP00000439707.2:p.Arg869= | |
| NM_000350.2:c.6230G= | NP_000341.2:p.Arg2077= | |
| NM_000350.3:c.6230G= MANE Select | NP_000341.2:p.Arg2077= |