Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16948940A>T , CM000679.2:g.16948940A>T | GRCh38 |
| NC_000017.10:g.16852254A>T , CM000679.1:g.16852254A>T | GRCh37 |
| NC_000017.9:g.16792979A>T | NCBI36 |
| NG_007281.1:g.28149T>A , LRG_120:g.28149T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261652.7:c.243T>A MANE Select | ENSP00000261652.2:p.His81Gln | |
| ENST00000261652.6:c.243T>A | ENSP00000261652.2:p.His81Gln | |
| ENST00000579315.5:c.243T>A | ENSP00000464069.1:p.His81Gln | |
| ENST00000581616.2:n.246T>A | ||
| ENST00000582931.5:n.147T>A | ||
| ENST00000583789.1:c.105T>A | ENSP00000462952.1:p.His35Gln | |
| ENST00000584950.5:c.105T>A | ENSP00000463582.1:p.His35Gln | |
| NM_012452.2:c.243T>A , LRG_120t1:c.243T>A | NP_036584.1:p.His81Gln | |
| NM_012452.3:c.243T>A MANE Select | NP_036584.1:p.His81Gln |