Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80286518G= , CM000666.2:g.80286518G= | GRCh38 |
| NC_000004.11:g.81207672G= , CM000666.1:g.81207672G= | GRCh37 |
| NC_000004.10:g.81426696G= | NCBI36 |
| NG_029501.1:g.24931G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312465.12:c.653G= MANE Select | ENSP00000311697.7:p.Arg218= | |
| ENST00000312465.11:c.653G= | ENSP00000311697.7:p.Arg218= | |
| ENST00000456523.3:c.*177G= | ENSP00000398353.3:n.*177G= | |
| ENST00000503413.1:n.602G= | ||
| ENST00000507780.1:c.342+11506G= | ENSP00000423903.1:n.342+11506G= | |
| NM_001291812.1:c.224G= | NP_001278741.1:p.Arg75= | |
| NM_004464.3:c.653G= | NP_004455.2:p.Arg218= | |
| NM_033143.2:c.*177G= | NP_149134.1:n.*177G= | |
| NM_001291812.2:c.224G= | NP_001278741.1:p.Arg75= | |
| NM_004464.4:c.653G= MANE Select | NP_004455.2:p.Arg218= |