Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70203510C>A , CM000673.2:g.70203510C>A | GRCh38 |
| NC_000011.9:g.70049616C>A , CM000673.1:g.70049616C>A | GRCh37 |
| NC_000011.8:g.69727264C>A | NCBI36 |
| NG_027966.1:g.5348C>A , LRG_228:g.5348C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003824.4:c.51C>A MANE Select | NP_003815.1:p.Ser17Arg |
| ENST00000301838.5:c.51C>A MANE Select | ENSP00000301838.5:p.Ser17Arg |
| NM_003824.3:c.51C>A , LRG_228t1:c.51C>A | NP_003815.1:p.Ser17Arg |
| ENST00000301838.4:c.51C>A | ENSP00000301838.4:p.Ser17Arg |