Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818727T= , CM000671.2:g.129818727T= | GRCh38 |
| NC_000009.11:g.132581006T= , CM000671.1:g.132581006T= | GRCh37 |
| NC_000009.10:g.131620827T= | NCBI36 |
| NG_008049.1:g.10436A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.620+18A= MANE Select | ENSP00000345719.4:n.620+18A= | |
| ENST00000651202.1:c.716+18A= | ENSP00000498222.1:n.716+18A= | |
| ENST00000351698.4:c.620+18A= | ENSP00000345719.4:n.620+18A= | |
| ENST00000473604.2:n.730+18A= | ||
| ENST00000474192.1:n.37+18A= | ||
| NM_000113.2:c.620+18A= | NP_000104.1:n.620+18A= | |
| XR_929731.1:n.780+18A= | ||
| XR_929731.3:n.648+18A= | ||
| NM_000113.3:c.620+18A= MANE Select | NP_000104.1:n.620+18A= |