Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80286624G= , CM000666.2:g.80286624G= | GRCh38 |
| NC_000004.11:g.81207778G= , CM000666.1:g.81207778G= | GRCh37 |
| NC_000004.10:g.81426802G= | NCBI36 |
| NG_029501.1:g.25037G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312465.12:c.759G= MANE Select | ENSP00000311697.7:p.Arg253= | |
| ENST00000312465.11:c.759G= | ENSP00000311697.7:p.Arg253= | |
| ENST00000456523.3:c.*283G= | ENSP00000398353.3:n.*283G= | |
| ENST00000503413.1:n.708G= | ||
| ENST00000507780.1:c.342+11612G= | ENSP00000423903.1:n.342+11612G= | |
| NM_001291812.1:c.330G= | NP_001278741.1:p.Arg110= | |
| NM_004464.3:c.759G= | NP_004455.2:p.Arg253= | |
| NM_033143.2:c.*283G= | NP_149134.1:n.*283G= | |
| NM_001291812.2:c.330G= | NP_001278741.1:p.Arg110= | |
| NM_004464.4:c.759G= MANE Select | NP_004455.2:p.Arg253= |