Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813721T= , CM000671.2:g.129813721T= | GRCh38 |
| NC_000009.11:g.132576000T= , CM000671.1:g.132576000T= | GRCh37 |
| NC_000009.10:g.131615821T= | NCBI36 |
| NG_008049.1:g.15442A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.*251A= MANE Select | ENSP00000345719.4:n.*251A= | |
| ENST00000651202.1:c.*518A= | ENSP00000498222.1:n.*518A= | |
| ENST00000351698.4:c.*251A= | ENSP00000345719.4:n.*251A= | |
| ENST00000474192.1:n.834A= | ||
| NM_000113.2:c.*251A= | NP_000104.1:n.*251A= | |
| XR_929731.3:n.1445A= | ||
| NM_000113.3:c.*251A= MANE Select | NP_000104.1:n.*251A= |