Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.30744085C>T , CM000675.2:g.30744085C>T | GRCh38 |
| NC_000013.10:g.31318222C>T , CM000675.1:g.31318222C>T | GRCh37 |
| NC_000013.9:g.30216222C>T | NCBI36 |
| NG_011963.2:g.35608C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380490.5:c.96C>T MANE Select | ENSP00000369858.3:p.His32= | |
| ENST00000380490.4:c.96C>T | ENSP00000369858.3:p.His32= | |
| ENST00000479597.1:n.236C>T | ||
| ENST00000617770.4:c.267C>T | ENSP00000479870.1:p.His89= | |
| NM_001204406.1:c.267C>T | NP_001191335.1:p.His89= | |
| NM_001629.3:c.96C>T | NP_001620.2:p.His32= | |
| XM_011535024.1:c.96C>T | XP_011533326.1:p.His32= | |
| XM_011535025.1:c.-145C>T | XP_011533327.1:n.-145C>T | |
| NM_001204406.2:c.267C>T | NP_001191335.1:p.His89= | |
| NM_001629.4:c.96C>T MANE Select | NP_001620.2:p.His32= |