Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414022C= , CM000665.2:g.119414022C= | GRCh38 |
| NC_000003.11:g.119132869C= , CM000665.1:g.119132869C= | GRCh37 |
| NC_000003.10:g.120615559C= | NCBI36 |
| NG_007665.2:g.124650C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2093C= MANE Select | ENSP00000264245.4:p.Pro698= | |
| ENST00000264245.8:c.2093C= | ENSP00000264245.4:p.Pro698= | |
| NM_020754.3:c.2093C= | NP_065805.2:p.Pro698= | |
| XM_005247671.3:c.2000C= | XP_005247728.1:p.Pro667= | |
| XM_006713714.2:c.2033C= | XP_006713777.1:p.Pro678= | |
| XM_006713714.3:c.2033C= | XP_006713777.1:p.Pro678= | |
| XM_017006955.1:c.1601C= | XP_016862444.1:p.Pro534= | |
| NM_020754.4:c.2093C= MANE Select | NP_065805.2:p.Pro698= |