Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16940352C= , CM000679.2:g.16940352C= | GRCh38 |
| NC_000017.10:g.16843666C= , CM000679.1:g.16843666C= | GRCh37 |
| NC_000017.9:g.16784391C= | NCBI36 |
| NG_007281.1:g.36737G= , LRG_120:g.36737G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012452.3:c.605G= MANE Select | NP_036584.1:p.Arg202= |
| ENST00000261652.7:c.605G= MANE Select | ENSP00000261652.2:p.Arg202= |
| NM_012452.2:c.605G= , LRG_120t1:c.605G= | NP_036584.1:p.Arg202= |
| ENST00000261652.6:c.605G= | ENSP00000261652.2:p.Arg202= |
| ENST00000579009.1:n.711G= | |
| ENST00000579315.5:c.446-7176G= | ENSP00000464069.1:n.446-7176G= |
| ENST00000582931.5:n.350-7415G= | |
| ENST00000583789.1:c.467G= | ENSP00000462952.1:p.Arg156= |
| ENST00000584950.5:c.467G= | ENSP00000463582.1:p.Arg156= |