Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48961770T>G , CM000679.2:g.48961770T>G | GRCh38 |
| NC_000017.10:g.47039132T>G , CM000679.1:g.47039132T>G | GRCh37 |
| NC_000017.9:g.44394131T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004123.3:c.307A>C MANE Select | NP_004114.1:p.Ser103Arg |
| ENST00000357424.2:c.307A>C MANE Select | ENSP00000350005.2:p.Ser103Arg |
| NM_004123.2:c.307A>C | NP_004114.1:p.Ser103Arg |