Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142957842G>A , CM000669.2:g.142957842G>A | GRCh38 |
| NC_000007.13:g.142654929G>A , CM000669.1:g.142654929G>A | GRCh37 |
| NC_000007.12:g.142365051G>A | NCBI36 |
| NG_007492.1:g.9575C>T | |
| NG_007492.2:g.9575C>T | |
| NG_007492.3:g.9575C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355265.7:c.657C>T MANE Select | ENSP00000347409.2:p.His219= | |
| ENST00000467543.6:c.*509C>T | ENSP00000420011.2:n.*509C>T | |
| ENST00000355265.6:c.657C>T | ENSP00000347409.2:p.His219= | |
| ENST00000467543.5:c.600C>T | ENSP00000420011.1:p.His200= | |
| ENST00000476829.5:c.525+462C>T | ENSP00000419889.1:n.525+462C>T | |
| ENST00000479768.6:n.775C>T | ||
| ENST00000494148.1:n.256C>T | ||
| NM_000420.2:c.657C>T | NP_000411.1:p.His219= | |
| XM_005249993.2:c.693C>T | XP_005250050.1:p.His231= | |
| NM_000420.3:c.657C>T MANE Select | NP_000411.1:p.His219= |