Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.71572541A>G , CM000678.2:g.71572541A>G | GRCh38 |
| NC_000016.9:g.71606444A>G , CM000678.1:g.71606444A>G | GRCh37 |
| NC_000016.8:g.70163945A>G | NCBI36 |
| NG_008235.1:g.9555T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000353.3:c.556T>C MANE Select | NP_000344.1:p.Tyr186His |
| ENST00000355962.5:c.556T>C MANE Select | ENSP00000348234.4:p.Tyr186His |
| NM_000353.2:c.556T>C | NP_000344.1:p.Tyr186His |
| ENST00000355962.4:c.556T>C | ENSP00000348234.4:p.Tyr186His |