Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43755756G= , CM000679.2:g.43755756G= | GRCh38 |
| NC_000017.10:g.41833124G= , CM000679.1:g.41833124G= | GRCh37 |
| NC_000017.9:g.39188650G= | NCBI36 |
| NG_008078.2:g.8033C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301691.3:c.228C= MANE Select | ENSP00000301691.1:p.Ser76= | |
| ENST00000301691.2:c.228C= | ENSP00000301691.1:p.Ser76= | |
| NM_025237.2:c.228C= | NP_079513.1:p.Ser76= | |
| NM_025237.3:c.228C= MANE Select | NP_079513.1:p.Ser76= |