Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149570117G= , CM000664.2:g.149570117G= | GRCh38 |
| NC_000002.11:g.150426631G= , CM000664.1:g.150426631G= | GRCh37 |
| NC_000002.10:g.150134877G= | NCBI36 |
| NG_009189.1:g.22700C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015702.3:c.748C= MANE Select | NP_056517.1:p.Arg250= |
| ENST00000303319.10:c.748C= MANE Select | ENSP00000301920.5:p.Arg250= |
| NM_015702.2:c.748C= | NP_056517.1:p.Arg250= |
| ENST00000303319.9:c.748C= | ENSP00000301920.5:p.Arg250= |
| ENST00000422782.2:c.850C= | ENSP00000408331.2:p.Arg284= |
| ENST00000428879.5:c.748C= | ENSP00000389060.1:p.Arg250= |