Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30756920C>T , CM000678.2:g.30756920C>T | GRCh38 |
| NC_000016.9:g.30768241C>T , CM000678.1:g.30768241C>T | GRCh37 |
| NC_000016.8:g.30675742C>T | NCBI36 |
| NG_016616.1:g.13622C>T | |
| NG_016616.2:g.13622C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000294.3:c.1044C>T MANE Select | NP_000285.1:p.His348= |
| ENST00000563588.6:c.1044C>T MANE Select | ENSP00000455607.1:p.His348= |
| NM_000294.2:c.1044C>T | NP_000285.1:p.His348= |
| NM_001172432.1:c.1044C>T | NP_001165903.1:p.His348= |
| NM_001172432.2:c.1044C>T | NP_001165903.1:p.His348= |
| ENST00000328273.11:c.1056C>T | ENSP00000329968.7:p.His352= |
| ENST00000424889.7:c.1044C>T | ENSP00000388571.3:p.His348= |
| ENST00000563588.5:c.1044C>T | ENSP00000455607.1:p.His348= |
| ENST00000563913.5:n.1377C>T | |
| ENST00000564838.5:n.1173C>T |