Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28741882C= , CM000684.2:g.28741882C= | GRCh38 |
| NC_000022.10:g.29137870C= , CM000684.1:g.29137870C= | GRCh37 |
| NC_000022.9:g.27467870C= | NCBI36 |
| NG_008150.1:g.4953G= | |
| NG_008150.2:g.4985G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000416671.5:c.-120G= | ENSP00000402225.1:n.-120G= |
| XM_011529845.1:c.-458G= | XP_011528147.1:n.-458G= |