Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66216920A>G , CM000679.2:g.66216920A>G | GRCh38 |
| NC_000017.10:g.64213038A>G , CM000679.1:g.64213038A>G | GRCh37 |
| NC_000017.9:g.61643500A>G | NCBI36 |
| NG_012045.1:g.17519T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205948.11:c.652T>C MANE Select | ENSP00000205948.6:p.Tyr218His | |
| ENST00000205948.10:c.652T>C | ENSP00000205948.6:p.Tyr218His | |
| ENST00000581797.5:c.472T>C | ENSP00000463553.1:p.Tyr158His | |
| ENST00000585162.1:c.125T>C | ||
| NM_000042.2:c.652T>C | NP_000033.2:p.Tyr218His | |
| NM_000042.3:c.652T>C MANE Select | NP_000033.2:p.Tyr218His |