Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16948958T>G , CM000679.2:g.16948958T>G | GRCh38 |
| NC_000017.10:g.16852272T>G , CM000679.1:g.16852272T>G | GRCh37 |
| NC_000017.9:g.16792997T>G | NCBI36 |
| NG_007281.1:g.28131A>C , LRG_120:g.28131A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261652.7:c.225A>C MANE Select | ENSP00000261652.2:p.Gln75His | |
| ENST00000261652.6:c.225A>C | ENSP00000261652.2:p.Gln75His | |
| ENST00000579315.5:c.225A>C | ENSP00000464069.1:p.Gln75His | |
| ENST00000581616.2:n.228A>C | ||
| ENST00000582931.5:n.129A>C | ||
| ENST00000583789.1:c.87A>C | ENSP00000462952.1:p.Gln29His | |
| ENST00000584950.5:c.87A>C | ENSP00000463582.1:p.Gln29His | |
| NM_012452.2:c.225A>C , LRG_120t1:c.225A>C | NP_036584.1:p.Gln75His | |
| NM_012452.3:c.225A>C MANE Select | NP_036584.1:p.Gln75His |