Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55039949T>C , CM000663.2:g.55039949T>C | GRCh38 |
| NC_000001.10:g.55505622T>C , CM000663.1:g.55505622T>C | GRCh37 |
| NC_000001.9:g.55278210T>C | NCBI36 |
| NG_009061.1:g.5403T>C , LRG_275:g.5403T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.112T>C | ENSP00000501161.2:p.Tyr38His | |
| ENST00000710286.1:c.469T>C | ENSP00000518176.1:p.Tyr157His | |
| ENST00000673726.1:c.112T>C | ENSP00000501004.1:p.Tyr38His | |
| ENST00000302118.5:c.112T>C MANE Select | ENSP00000303208.5:p.Tyr38His | |
| NM_174936.3:c.112T>C , LRG_275t1:c.112T>C | NP_777596.2:p.Tyr38His | |
| NM_174936.4:c.112T>C MANE Select | NP_777596.2:p.Tyr38His |