Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47351534T>A , CM000672.2:g.47351534T>A | GRCh38 |
| NC_000010.10:g.48387828A>T , CM000672.1:g.48387828A>T | GRCh37 |
| NC_000010.9:g.48007834A>T | NCBI36 |
| NG_029718.1:g.8164T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002900.3:c.3050T>A MANE Select | NP_002891.1:p.Met1017Lys |
| ENST00000584701.2:c.3050T>A MANE Select | ENSP00000463151.1:p.Met1017Lys |
| NM_002900.2:c.3050T>A | NP_002891.1:p.Met1017Lys |
| ENST00000584701.1:c.3050T>A | ENSP00000463151.1:p.Met1017Lys |