Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814026C= , CM000664.2:g.218814026C= | GRCh38 |
| NC_000002.11:g.219678749C= , CM000664.1:g.219678749C= | GRCh37 |
| NC_000002.10:g.219386993C= | NCBI36 |
| NG_007959.1:g.37278C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1023C= MANE Select | ENSP00000258415.4:p.Ser341= | |
| ENST00000258415.8:c.1023C= | ENSP00000258415.4:p.Ser341= | |
| ENST00000445971.1:c.*484C= | ENSP00000404945.1:n.*484C= | |
| ENST00000466602.1:n.1145C= | ||
| ENST00000494263.5:n.1457C= | ||
| NM_000784.3:c.1023C= | NP_000775.1:p.Ser341= | |
| XM_017003488.2:c.603C= | XP_016858977.1:p.Ser201= | |
| NM_000784.4:c.1023C= MANE Select | NP_000775.1:p.Ser341= |