Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960441G>T , CM000670.2:g.47960441G>T | GRCh38 |
| NC_000008.10:g.48873001G>T , CM000670.1:g.48873001G>T | GRCh37 |
| NC_000008.9:g.49035554G>T | NCBI36 |
| NG_023435.1:g.4743C>A , LRG_162:g.4743C>A | |
| NG_032967.1:g.5239G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518221.5:c.-15+121G>T | ENSP00000430329.1:n.-15+121G>T | |
| NM_005914.3:c.-704G>T | NP_005905.2:n.-704G>T | |
| NM_182746.2:c.-588G>T | NP_877423.1:n.-588G>T | |
| XM_005251234.1:c.-950G>T | XP_005251291.1:n.-950G>T |