Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119365357C>T , CM000665.2:g.119365357C>T | GRCh38 |
| NC_000003.11:g.119084204C>T , CM000665.1:g.119084204C>T | GRCh37 |
| NC_000003.10:g.120566894C>T | NCBI36 |
| NG_007665.2:g.75985C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.142C>T MANE Select | ENSP00000264245.4:p.His48Tyr | |
| ENST00000264245.8:c.142C>T | ENSP00000264245.4:p.His48Tyr | |
| ENST00000482743.1:c.55C>T | ENSP00000418429.1:p.His19Tyr | |
| NM_020754.3:c.142C>T | NP_065805.2:p.His48Tyr | |
| XM_005247671.3:c.49C>T | XP_005247728.1:p.His17Tyr | |
| XM_006713714.2:c.142C>T | XP_006713777.1:p.His48Tyr | |
| XM_006713714.3:c.142C>T | XP_006713777.1:p.His48Tyr | |
| XM_017006955.1:c.-206C>T | XP_016862444.1:n.-206C>T | |
| NM_020754.4:c.142C>T MANE Select | NP_065805.2:p.His48Tyr |