Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119409550C>T , CM000665.2:g.119409550C>T | GRCh38 |
| NC_000003.11:g.119128397C>T , CM000665.1:g.119128397C>T | GRCh37 |
| NC_000003.10:g.120611087C>T | NCBI36 |
| NG_007665.2:g.120178C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.1700C>T MANE Select | ENSP00000264245.4:p.Pro567Leu | |
| ENST00000264245.8:c.1700C>T | ENSP00000264245.4:p.Pro567Leu | |
| NM_020754.3:c.1700C>T | NP_065805.2:p.Pro567Leu | |
| XM_005247671.3:c.1607C>T | XP_005247728.1:p.Pro536Leu | |
| XM_006713714.2:c.1640C>T | XP_006713777.1:p.Pro547Leu | |
| XM_006713714.3:c.1640C>T | XP_006713777.1:p.Pro547Leu | |
| XM_017006955.1:c.1208C>T | XP_016862444.1:p.Pro403Leu | |
| NM_020754.4:c.1700C>T MANE Select | NP_065805.2:p.Pro567Leu |