Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17339490C>T , CM000669.2:g.17339490C>T | GRCh38 |
| NC_000007.13:g.17379114C>T , CM000669.1:g.17379114C>T | GRCh37 |
| NC_000007.12:g.17345639C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242057.9:c.1665C>T MANE Select | ENSP00000242057.4:p.His555= | |
| ENST00000637807.1:c.1635C>T | ENSP00000490530.1:p.His545= | |
| ENST00000642825.1:c.1620C>T | ENSP00000495987.1:p.His540= | |
| ENST00000242057.8:c.1665C>T | ENSP00000242057.4:p.His555= | |
| ENST00000463496.1:c.1665C>T | ENSP00000436466.1:p.His555= | |
| ENST00000492120.1:n.647C>T | ||
| NM_001621.4:c.1665C>T | NP_001612.1:p.His555= | |
| NM_001621.5:c.1665C>T MANE Select | NP_001612.1:p.His555= |