Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133647840T>A , CM000671.2:g.133647840T>A | GRCh38 |
| NC_000009.11:g.136512962T>A , CM000671.1:g.136512962T>A | GRCh37 |
| NC_000009.10:g.135502783T>A | NCBI36 |
| NG_008645.1:g.16478T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000787.4:c.1025-6T>A MANE Select | NP_000778.3:n.1025-6T>A |
| ENST00000393056.8:c.1025-6T>A MANE Select | ENSP00000376776.2:n.1025-6T>A |
| NM_000787.3:c.1025-6T>A | NP_000778.3:n.1025-6T>A |
| ENST00000393056.6:c.1025-6T>A | ENSP00000376776.2:n.1025-6T>A |