Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814192C= , CM000671.2:g.129814192C= | GRCh38 |
| NC_000009.11:g.132576471C= , CM000671.1:g.132576471C= | GRCh37 |
| NC_000009.10:g.131616292C= | NCBI36 |
| NG_008049.1:g.14971G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.779G= MANE Select | ENSP00000345719.4:p.Arg260= | |
| ENST00000651202.1:c.*47G= | ENSP00000498222.1:n.*47G= | |
| ENST00000351698.4:c.779G= | ENSP00000345719.4:p.Arg260= | |
| ENST00000474192.1:n.363G= | ||
| NM_000113.2:c.779G= | NP_000104.1:p.Arg260= | |
| XR_929731.1:n.1106G= | ||
| XR_929731.3:n.974G= | ||
| NM_000113.3:c.779G= MANE Select | NP_000104.1:p.Arg260= |