Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168291339C= , CM000663.2:g.168291339C= | GRCh38 |
| NC_000001.10:g.168260577C= , CM000663.1:g.168260577C= | GRCh37 |
| NC_000001.9:g.166527201C= | NCBI36 |
| NG_008244.1:g.15300C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005149.3:c.383C= MANE Select | NP_005140.1:p.Ser128= |
| ENST00000367821.8:c.383C= MANE Select | ENSP00000356795.3:p.Ser128= |
| NM_005149.2:c.383C= | NP_005140.1:p.Ser128= |
| ENST00000367821.7:c.383C= | ENSP00000356795.3:p.Ser128= |
| ENST00000431969.5:c.180C= |