Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.19049219A>C , CM000671.2:g.19049219A>C | GRCh38 |
| NC_000009.11:g.19049217A>C , CM000671.1:g.19049217A>C | GRCh37 |
| NC_000009.10:g.19039217A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001287049.1:c.-168T>G | NP_001273978.1:n.-168T>G |
| NM_001287049.2:c.-168T>G | NP_001273978.1:n.-168T>G |
| ENST00000542071.2:c.-168T>G | ENSP00000438823.2:n.-168T>G |
| ENST00000649457.1:c.-168T>G | ENSP00000497677.1:n.-168T>G |
| XM_011517745.1:c.-230T>G | XP_011516047.1:n.-230T>G |
| XM_011517745.2:c.-230T>G | XP_011516047.1:n.-230T>G |
| XM_024447428.1:c.-30T>G | XP_024303196.1:n.-30T>G |