Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50140204A>G , CM000677.2:g.50140204A>G | GRCh38 |
| NC_000015.9:g.50432401A>G , CM000677.1:g.50432401A>G | GRCh37 |
| NC_000015.8:g.48219693A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000558829.1:c.-42-33196T>C | ENSP00000453539.1:n.-42-33196T>C | |
| XM_011522056.1:c.-42-33196T>C | XP_011520358.1:n.-42-33196T>C | |
| XM_011522056.3:c.-42-33196T>C | XP_011520358.3:n.-42-33196T>C | |
| XM_017022587.2:c.-42-33196T>C | XP_016878076.2:n.-42-33196T>C |