Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80106618A>C , CM000668.2:g.80106618A>C | GRCh38 |
| NC_000006.11:g.80816335A>C , CM000668.1:g.80816335A>C | GRCh37 |
| NC_000006.10:g.80873054A>C | NCBI36 |
| NG_009775.1:g.4992A>C | |
| NG_009775.2:g.4992A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000056.4:c.-76A>C | NP_000047.1:n.-76A>C | |
| NM_001318975.1:c.-80A>C | NP_001305904.1:n.-80A>C | |
| NM_183050.3:c.-76A>C | NP_898871.1:n.-76A>C | |
| NR_134945.1:n.9A>C |