Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172958G>T , CM000678.2:g.172958G>T | GRCh38 |
| NC_000016.9:g.222957G>T , CM000678.1:g.222957G>T | GRCh37 |
| NC_000016.8:g.162957G>T | NCBI36 |
| NG_000006.1:g.33821G>T | |
| NG_059186.1:g.1308G>T | |
| NG_059271.1:g.5112G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.46G>T MANE Select | ENSP00000251595.6:p.Gly16Cys | |
| ENST00000251595.10:c.46G>T | ENSP00000251595.6:p.Gly16Cys | |
| ENST00000397806.1:c.-2G>T | ENSP00000380908.1:n.-2G>T | |
| ENST00000482565.1:n.65G>T | ||
| ENST00000484216.1:n.15G>T | ||
| NM_000517.4:c.46G>T | NP_000508.1:p.Gly16Cys | |
| NM_000517.6:c.46G>T MANE Select | NP_000508.1:p.Gly16Cys |