Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818707C= , CM000671.2:g.129818707C= | GRCh38 |
| NC_000009.11:g.132580986C= , CM000671.1:g.132580986C= | GRCh37 |
| NC_000009.10:g.131620807C= | NCBI36 |
| NG_008049.1:g.10456G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.620+38G= MANE Select | ENSP00000345719.4:n.620+38G= | |
| ENST00000651202.1:c.716+38G= | ENSP00000498222.1:n.716+38G= | |
| ENST00000351698.4:c.620+38G= | ENSP00000345719.4:n.620+38G= | |
| ENST00000473604.2:n.730+38G= | ||
| ENST00000474192.1:n.37+38G= | ||
| NM_000113.2:c.620+38G= | NP_000104.1:n.620+38G= | |
| XR_929731.1:n.780+38G= | ||
| XR_929731.3:n.648+38G= | ||
| NM_000113.3:c.620+38G= MANE Select | NP_000104.1:n.620+38G= |