Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70203508A>C , CM000673.2:g.70203508A>C | GRCh38 |
| NC_000011.9:g.70049614A>C , CM000673.1:g.70049614A>C | GRCh37 |
| NC_000011.8:g.69727262A>C | NCBI36 |
| NG_027966.1:g.5346A>C , LRG_228:g.5346A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003824.4:c.49A>C MANE Select | NP_003815.1:p.Ser17Arg |
| ENST00000301838.5:c.49A>C MANE Select | ENSP00000301838.5:p.Ser17Arg |
| NM_003824.3:c.49A>C , LRG_228t1:c.49A>C | NP_003815.1:p.Ser17Arg |
| ENST00000301838.4:c.49A>C | ENSP00000301838.4:p.Ser17Arg |