Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.34762678G>C , CM000668.2:g.34762678G>C | GRCh38 |
| NC_000006.11:g.34730455G>C , CM000668.1:g.34730455G>C | GRCh37 |
| NC_000006.10:g.34838433G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244520.10:c.135G>C MANE Select | ENSP00000244520.5:p.Gln45His | |
| ENST00000244520.9:c.135G>C | ENSP00000244520.5:p.Gln45His | |
| ENST00000374017.3:c.198G>C | ENSP00000363129.3:p.Gln66His | |
| ENST00000374018.5:c.12G>C | ENSP00000363130.1:p.Gln4His | |
| ENST00000474635.1:n.127G>C | ||
| NM_003093.2:c.135G>C | NP_003084.1:p.Gln45His | |
| NR_029472.1:n.542G>C | ||
| NM_003093.3:c.135G>C MANE Select | NP_003084.1:p.Gln45His | |
| NR_029472.2:n.131G>C |