Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80106641C= , CM000668.2:g.80106641C= | GRCh38 |
| NC_000006.11:g.80816358C= , CM000668.1:g.80816358C= | GRCh37 |
| NC_000006.10:g.80873077C= | NCBI36 |
| NG_009775.1:g.5015C= | |
| NG_009775.2:g.5015C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000056.3:c.-53C= | NP_000047.1:n.-53C= | |
| NM_183050.2:c.-53C= | NP_898871.1:n.-53C= | |
| NM_000056.4:c.-53C= | NP_000047.1:n.-53C= | |
| NM_001318975.1:c.-57C= | NP_001305904.1:n.-57C= | |
| NM_183050.3:c.-53C= | NP_898871.1:n.-53C= | |
| NR_134945.1:n.32C= |