Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48513591G= , CM000677.2:g.48513591G= | GRCh38 |
| NC_000015.9:g.48805788G= , CM000677.1:g.48805788G= | GRCh37 |
| NC_000015.8:g.46593080G= | NCBI36 |
| NG_008805.2:g.137198C= , LRG_778:g.137198C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000138.5:c.1546C= MANE Select | NP_000129.3:p.Arg516= |
| ENST00000316623.10:c.1546C= MANE Select | ENSP00000325527.5:p.Arg516= |
| NM_000138.4:c.1546C= , LRG_778t1:c.1546C= | NP_000129.3:p.Arg516= |
| ENST00000316623.9:c.1546C= | ENSP00000325527.5:p.Arg516= |
| ENST00000537463.6:c.636+24120C= | ENSP00000440294.2:n.636+24120C= |
| ENST00000559133.6:c.1546C= | ENSP00000453958.2:p.Arg516= |
| ENST00000674301.2:c.1546C= | ENSP00000501333.2:p.Arg516= |
| ENST00000684448.1:n.220C= |