Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414404A>C , CM000665.2:g.119414404A>C | GRCh38 |
| NC_000003.11:g.119133251A>C , CM000665.1:g.119133251A>C | GRCh37 |
| NC_000003.10:g.120615941A>C | NCBI36 |
| NG_007665.2:g.125032A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2475A>C MANE Select | ENSP00000264245.4:p.Gln825His | |
| ENST00000264245.8:c.2475A>C | ENSP00000264245.4:p.Gln825His | |
| NM_020754.3:c.2475A>C | NP_065805.2:p.Gln825His | |
| XM_005247671.3:c.2382A>C | XP_005247728.1:p.Gln794His | |
| XM_006713714.2:c.2415A>C | XP_006713777.1:p.Gln805His | |
| XM_006713714.3:c.2415A>C | XP_006713777.1:p.Gln805His | |
| XM_017006955.1:c.1983A>C | XP_016862444.1:p.Gln661His | |
| NM_020754.4:c.2475A>C MANE Select | NP_065805.2:p.Gln825His |