Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50905510G>A , CM000676.2:g.50905510G>A | GRCh38 |
| NC_000014.8:g.51372228G>A , CM000676.1:g.51372228G>A | GRCh37 |
| NC_000014.7:g.50441978G>A | NCBI36 |
| NG_012796.1:g.44021C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002863.5:c.2426C>T MANE Select | NP_002854.3:p.Ser809Leu |
| ENST00000216392.8:c.2426C>T MANE Select | ENSP00000216392.7:p.Ser809Leu |
| NM_001163940.1:c.2324C>T | NP_001157412.1:p.Ser775Leu |
| NM_001163940.2:c.2324C>T | NP_001157412.1:p.Ser775Leu |
| NM_002863.4:c.2426C>T | NP_002854.3:p.Ser809Leu |
| ENST00000216392.7:c.2426C>T | ENSP00000216392.7:p.Ser809Leu |
| ENST00000532462.5:c.2379+2761C>T | ENSP00000431657.1:n.2379+2761C>T |
| ENST00000544180.6:c.2324C>T | ENSP00000443787.1:p.Ser775Leu |