Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021334T>G , CM000663.2:g.94021334T>G | GRCh38 |
| NC_000001.10:g.94486890T>G , CM000663.1:g.94486890T>G | GRCh37 |
| NC_000001.9:g.94259478T>G | NCBI36 |
| NG_009073.1:g.104816A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.4924A>C MANE Select | NP_000341.2:p.Ser1642Arg |
| ENST00000370225.4:c.4924A>C MANE Select | ENSP00000359245.3:p.Ser1642Arg |
| NM_000350.2:c.4924A>C | NP_000341.2:p.Ser1642Arg |
| ENST00000370225.3:c.4924A>C | ENSP00000359245.3:p.Ser1642Arg |
| ENST00000460514.1:n.418A>C | |
| ENST00000470771.1:n.34A>C | |
| ENST00000536513.5:c.1300A>C | ENSP00000439707.2:p.Ser434Arg |