Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177382A>C , CM000678.2:g.177382A>C | GRCh38 |
| NC_000016.9:g.227381A>C , CM000678.1:g.227381A>C | GRCh37 |
| NC_000016.8:g.167381A>C | NCBI36 |
| NG_000006.1:g.38245A>C | |
| NG_059186.1:g.5732A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000558.5:c.400A>C MANE Select | NP_000549.1:p.Ser134Arg |
| ENST00000320868.9:c.400A>C MANE Select | ENSP00000322421.5:p.Ser134Arg |
| NM_000558.4:c.400A>C | NP_000549.1:p.Ser134Arg |
| ENST00000397797.1:c.304A>C | ENSP00000380899.1:p.Ser102Arg |
| ENST00000472694.1:n.536A>C |