Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1986021G= , CM000678.2:g.1986021G= | GRCh38 |
| NC_000016.9:g.2036022G= , CM000678.1:g.2036022G= | GRCh37 |
| NC_000016.8:g.1976023G= | NCBI36 |
| NG_016288.1:g.6873G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.386G= | ENSP00000455885.1:p.Cys129= | |
| ENST00000248114.7:c.611G= MANE Select | ENSP00000248114.6:p.Cys204= | |
| ENST00000248114.6:c.611G= | ENSP00000248114.6:p.Cys204= | |
| ENST00000565658.1:n.768G= | ||
| ENST00000567719.1:c.386G= | ENSP00000455885.1:p.Cys129= | |
| ENST00000569451.1:c.*84G= | ENSP00000456432.1:n.*84G= | |
| NM_005262.2:c.611G= | NP_005253.3:p.Cys204= | |
| NM_005262.3:c.611G= MANE Select | NP_005253.3:p.Cys204= |