Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.70049602T>C , CM000667.2:g.70049602T>C | GRCh38 |
| NC_000005.9:g.69345429T>C , CM000667.1:g.69345429T>C | GRCh37 |
| NC_000005.8:g.69381185T>C | NCBI36 |
| NG_008728.1:g.5080T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_017411.3:c.-84T>C | NP_059107.1:n.-84T>C | |
| NM_022875.2:c.-84T>C | NP_075013.1:n.-84T>C | |
| NM_022876.2:c.-84T>C | NP_075014.1:n.-84T>C | |
| NM_022877.2:c.-84T>C | NP_075015.1:n.-84T>C | |
| XR_948432.1:n.1054+61598T>C |