Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2317688A>T , CM000678.2:g.2317688A>T | GRCh38 |
| NC_000016.9:g.2367689A>T , CM000678.1:g.2367689A>T | GRCh37 |
| NC_000016.8:g.2307690A>T | NCBI36 |
| NG_011790.1:g.28059T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.950T>A MANE Select | ENSP00000301732.5:p.Leu317His | |
| ENST00000301732.9:c.950T>A | ENSP00000301732.5:p.Leu317His | |
| ENST00000382381.7:c.950T>A | ENSP00000371818.3:p.Leu317His | |
| ENST00000563623.5:n.1513T>A | ||
| NM_001089.2:c.950T>A | NP_001080.2:p.Leu317His | |
| NM_001089.3:c.950T>A MANE Select | NP_001080.2:p.Leu317His |