Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47004322A>T , CM000681.2:g.47004322A>T | GRCh38 |
| NC_000019.9:g.47507579A>T , CM000681.1:g.47507579A>T | GRCh37 |
| NC_000019.8:g.52199419A>T | NCBI36 |
| NG_047014.1:g.90756A>T | |
| NG_047014.2:g.148326A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404338.8:c.8134A>T | ENSP00000385720.2:n.8134A>T | |
| ENST00000672722.1:c.*3634A>T MANE Select | ENSP00000500409.1:n.*3634A>T | |
| ENST00000404338.7:c.8134A>T | ENSP00000385720.2:n.8134A>T | |
| NM_004491.4:c.8134A>T | NP_004482.4:n.8134A>T | |
| NM_004491.5:c.*3634A>T MANE Select | NP_004482.4:n.*3634A>T |