Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350037A>C , CM000672.2:g.47350037A>C | GRCh38 |
| NC_000010.10:g.48389325T>G , CM000672.1:g.48389325T>G | GRCh37 |
| NC_000010.9:g.48009331T>G | NCBI36 |
| NG_029718.1:g.6667A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1553A>C MANE Select | ENSP00000463151.1:p.Gln518Pro | |
| ENST00000584701.1:c.1553A>C | ENSP00000463151.1:p.Gln518Pro | |
| NM_002900.2:c.1553A>C | NP_002891.1:p.Gln518Pro | |
| NM_002900.3:c.1553A>C MANE Select | NP_002891.1:p.Gln518Pro |