Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43140453C>A , CM000670.2:g.43140453C>A | GRCh38 |
| NC_000008.10:g.42995596C>A , CM000670.1:g.42995596C>A | GRCh37 |
| NC_000008.9:g.43114753C>A | NCBI36 |
| NG_009552.1:g.5005C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_152419.2:c.-44C>A | NP_689632.2:n.-44C>A | |
| XM_005273409.1:c.-44C>A | XP_005273466.1:n.-44C>A | |
| XM_005273410.1:c.-44C>A | XP_005273467.1:n.-44C>A | |
| XM_005273411.1:c.-44C>A | XP_005273468.1:n.-44C>A | |
| XM_005273412.2:c.-44C>A | XP_005273469.1:n.-44C>A | |
| XM_005273412.4:c.-44C>A | XP_005273469.1:n.-44C>A |