Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8072841C= , CM000679.2:g.8072841C= | GRCh38 |
| NC_000017.10:g.7976159C= , CM000679.1:g.7976159C= | GRCh37 |
| NC_000017.9:g.7916884C= | NCBI36 |
| NG_007099.1:g.19863G= | |
| NG_007099.2:g.19876G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001139.3:c.2036G= MANE Select | NP_001130.1:p.Arg679= |
| ENST00000647874.1:c.2036G= MANE Select | ENSP00000497784.1:p.Arg679= |
| NM_001139.2:c.2036G= | NP_001130.1:p.Arg679= |
| ENST00000319144.4:c.2036G= | ENSP00000315167.4:p.Arg679= |
| ENST00000649809.1:c.1100G= | ENSP00000496845.1:p.Arg367= |
| ENST00000650441.1:n.459G= |