Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120628537A>T , CM000665.2:g.120628537A>T | GRCh38 |
| NC_000003.11:g.120347384A>T , CM000665.1:g.120347384A>T | GRCh37 |
| NC_000003.10:g.121830074A>T | NCBI36 |
| NG_011957.1:g.58945T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.1189-8T>A MANE Select | ENSP00000283871.5:n.1189-8T>A | |
| ENST00000283871.9:c.1189-8T>A | ENSP00000283871.5:n.1189-8T>A | |
| ENST00000492108.5:c.468-8T>A | ENSP00000419838.1:n.468-8T>A | |
| NM_000187.3:c.1189-8T>A | NP_000178.2:n.1189-8T>A | |
| XM_005247412.1:c.964-8T>A | XP_005247469.1:n.964-8T>A | |
| XM_005247412.2:c.964-8T>A | XP_005247469.1:n.964-8T>A | |
| XM_017006277.2:c.766-8T>A | XP_016861766.1:n.766-8T>A | |
| NM_000187.4:c.1189-8T>A MANE Select | NP_000178.2:n.1189-8T>A |