Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924365A= , CM000675.2:g.27924365A= | GRCh38 |
| NC_000013.10:g.28498502A= , CM000675.1:g.28498502A= | GRCh37 |
| NC_000013.9:g.27396502A= | NCBI36 |
| NG_008183.1:g.9335A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.516A= MANE Select | ENSP00000370421.4:p.Ser172= | |
| ENST00000381033.4:c.516A= | ENSP00000370421.4:p.Ser172= | |
| NM_000209.3:c.516A= | NP_000200.1:p.Ser172= | |
| NM_000209.4:c.516A= MANE Select | NP_000200.1:p.Ser172= |