Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350202T>C , CM000672.2:g.47350202T>C | GRCh38 |
| NC_000010.10:g.48389160A>G , CM000672.1:g.48389160A>G | GRCh37 |
| NC_000010.9:g.48009166A>G | NCBI36 |
| NG_029718.1:g.6832T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1718T>C MANE Select | ENSP00000463151.1:p.Leu573Pro | |
| ENST00000584701.1:c.1718T>C | ENSP00000463151.1:p.Leu573Pro | |
| NM_002900.2:c.1718T>C | NP_002891.1:p.Leu573Pro | |
| NM_002900.3:c.1718T>C MANE Select | NP_002891.1:p.Leu573Pro |