Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136673911C>G , CM000671.2:g.136673911C>G | GRCh38 |
| NC_000009.11:g.139568363C>G , CM000671.1:g.139568363C>G | GRCh37 |
| NC_000009.10:g.138688184C>G | NCBI36 |
| NG_008090.1:g.18549G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.678G>C MANE Select | ENSP00000360761.2:p.Gln226His | |
| ENST00000371694.7:c.582G>C | ENSP00000360759.3:p.Gln194His | |
| ENST00000371696.6:c.678G>C | ENSP00000360761.2:p.Gln226His | |
| ENST00000472820.1:n.606G>C | ||
| ENST00000538402.1:c.678G>C | ENSP00000438919.1:p.Gln226His | |
| NM_001012727.1:c.582G>C | NP_001012745.1:p.Gln194His | |
| NM_006412.3:c.678G>C | NP_006403.2:p.Gln226His | |
| NM_006412.4:c.678G>C MANE Select | NP_006403.2:p.Gln226His | |
| NM_001012727.2:c.582G>C | NP_001012745.1:p.Gln194His |