Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102238975C>T , CM000670.2:g.102238975C>T | GRCh38 |
| NC_000008.10:g.103251203C>T , CM000670.1:g.103251203C>T | GRCh37 |
| NC_000008.9:g.103320379C>T | NCBI36 |
| NG_016617.1:g.5144G>A , LRG_788:g.5144G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001172478.1:c.-101G>A | NP_001165949.1:n.-101G>A |
| NM_015713.4:c.-101G>A , LRG_788t2:c.-101G>A | NP_056528.2:n.-101G>A |
| ENST00000251810.7:c.-101G>A | ENSP00000251810.3:n.-101G>A |