Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271641T= , CM000668.2:g.31271641T= | GRCh38 |
| NC_000006.11:g.31239418T= , CM000668.1:g.31239418T= | GRCh37 |
| NC_000006.10:g.31347397T= | NCBI36 |
| NG_029422.2:g.5491A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.301A= MANE Select | ENSP00000365402.5:p.Ser101= | |
| ENST00000376228.9:c.301A= | ENSP00000365402.5:p.Ser101= | |
| ENST00000376237.8:c.301A= | ENSP00000365412.4:p.Ser101= | |
| ENST00000383329.7:c.301A= | ENSP00000372819.3:p.Ser101= | |
| ENST00000415537.1:c.299A= | ||
| ENST00000484378.1:n.320A= | ||
| ENST00000487245.5:n.410A= | ||
| ENST00000495835.1:n.490A= | ||
| NM_002117.5:c.301A= | NP_002108.4:p.Ser101= | |
| NM_002117.6:c.301A= MANE Select | NP_002108.4:p.Ser101= |