Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119402275C= , CM000665.2:g.119402275C= | GRCh38 |
| NC_000003.11:g.119121122C= , CM000665.1:g.119121122C= | GRCh37 |
| NC_000003.10:g.120603812C= | NCBI36 |
| NG_007665.2:g.112903C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.1523C= MANE Select | ENSP00000264245.4:p.Pro508= | |
| ENST00000264245.8:c.1523C= | ENSP00000264245.4:p.Pro508= | |
| NM_020754.3:c.1523C= | NP_065805.2:p.Pro508= | |
| XM_005247671.3:c.1430C= | XP_005247728.1:p.Pro477= | |
| XM_006713714.2:c.1463C= | XP_006713777.1:p.Pro488= | |
| XM_006713714.3:c.1463C= | XP_006713777.1:p.Pro488= | |
| XM_017006955.1:c.1031C= | XP_016862444.1:p.Pro344= | |
| NM_020754.4:c.1523C= MANE Select | NP_065805.2:p.Pro508= |