Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80106639C= , CM000668.2:g.80106639C= | GRCh38 |
| NC_000006.11:g.80816356C= , CM000668.1:g.80816356C= | GRCh37 |
| NC_000006.10:g.80873075C= | NCBI36 |
| NG_009775.1:g.5013C= | |
| NG_009775.2:g.5013C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000056.3:c.-55C= | NP_000047.1:n.-55C= | |
| NM_183050.2:c.-55C= | NP_898871.1:n.-55C= | |
| NM_000056.4:c.-55C= | NP_000047.1:n.-55C= | |
| NM_001318975.1:c.-59C= | NP_001305904.1:n.-59C= | |
| NM_183050.3:c.-55C= | NP_898871.1:n.-55C= | |
| NR_134945.1:n.30C= |