Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.63381972T>C , CM000677.2:g.63381972T>C | GRCh38 |
| NC_000015.9:g.63674171T>C , CM000677.1:g.63674171T>C | GRCh37 |
| NC_000015.8:g.61461224T>C | NCBI36 |
| NG_028022.1:g.4905A>G | |
| NG_028022.2:g.5195A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001218.4:c.-252A>G | NP_001209.1:n.-252A>G |
| NM_001293642.1:c.-252A>G | NP_001280571.1:n.-252A>G |
| NM_206925.2:c.-252A>G | NP_996808.1:n.-252A>G |
| NR_135511.1:n.195A>G | |
| ENST00000178638.7:c.-252A>G | ENSP00000178638.3:n.-252A>G |