Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.2064072G>T , CM000670.2:g.2064072G>T | GRCh38 |
| NC_000008.9:g.1999599G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262113.9:c.653+4827G>T MANE Select | ENSP00000262113.4:n.653+4827G>T | |
| ENST00000262113.8:c.653+4827G>T | ENSP00000262113.4:n.653+4827G>T | |
| ENST00000523438.1:c.-82+18904G>T | ENSP00000428396.1:n.-82+18904G>T | |
| NM_003970.3:c.653+4827G>T | NP_003961.3:n.653+4827G>T | |
| XM_006716237.1:c.653+4827G>T | XP_006716300.1:n.653+4827G>T | |
| NM_003970.4:c.653+4827G>T MANE Select | NP_003961.3:n.653+4827G>T |