Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813725T= , CM000671.2:g.129813725T= | GRCh38 |
| NC_000009.11:g.132576004T= , CM000671.1:g.132576004T= | GRCh37 |
| NC_000009.10:g.131615825T= | NCBI36 |
| NG_008049.1:g.15438A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.*247A= MANE Select | ENSP00000345719.4:n.*247A= | |
| ENST00000651202.1:c.*514A= | ENSP00000498222.1:n.*514A= | |
| ENST00000351698.4:c.*247A= | ENSP00000345719.4:n.*247A= | |
| ENST00000474192.1:n.830A= | ||
| NM_000113.2:c.*247A= | NP_000104.1:n.*247A= | |
| XR_929731.3:n.1441A= | ||
| NM_000113.3:c.*247A= MANE Select | NP_000104.1:n.*247A= |