Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74937950A>T , CM000677.2:g.74937950A>T | GRCh38 |
| NC_000015.9:g.75230291A>T , CM000677.1:g.75230291A>T | GRCh37 |
| NC_000015.8:g.73017344A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322347.11:c.65T>A MANE Select | ENSP00000317780.6:p.Leu22His | |
| ENST00000322347.10:c.65T>A | ENSP00000317780.6:p.Leu22His | |
| ENST00000562233.5:c.65T>A | ENSP00000456253.1:p.Leu22His | |
| ENST00000564811.1:c.65T>A | ENSP00000456386.1:p.Leu22His | |
| ENST00000567270.5:c.65T>A | ENSP00000457974.1:p.Leu22His | |
| ENST00000568783.5:c.65T>A | ENSP00000455053.1:p.Leu22His | |
| NM_004255.3:c.65T>A | NP_004246.2:p.Leu22His | |
| NM_004255.4:c.65T>A MANE Select | NP_004246.2:p.Leu22His |