Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16948898C>A , CM000679.2:g.16948898C>A | GRCh38 |
| NC_000017.10:g.16852212C>A , CM000679.1:g.16852212C>A | GRCh37 |
| NC_000017.9:g.16792937C>A | NCBI36 |
| NG_007281.1:g.28191G>T , LRG_120:g.28191G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261652.7:c.285G>T MANE Select | ENSP00000261652.2:p.Gln95His | |
| ENST00000261652.6:c.285G>T | ENSP00000261652.2:p.Gln95His | |
| ENST00000579315.5:c.285G>T | ENSP00000464069.1:p.Gln95His | |
| ENST00000581616.2:n.288G>T | ||
| ENST00000582931.5:n.189G>T | ||
| ENST00000583789.1:c.147G>T | ENSP00000462952.1:p.Gln49His | |
| ENST00000584950.5:c.147G>T | ENSP00000463582.1:p.Gln49His | |
| NM_012452.2:c.285G>T , LRG_120t1:c.285G>T | NP_036584.1:p.Gln95His | |
| NM_012452.3:c.285G>T MANE Select | NP_036584.1:p.Gln95His |