Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17553481G>C , CM000673.2:g.17553481G>C | GRCh38 |
| NC_000011.9:g.17575028G>C , CM000673.1:g.17575028G>C | GRCh37 |
| NC_000011.8:g.17531604G>C | NCBI36 |
| NG_033191.1:g.11109G>C | |
| NG_033191.2:g.11109G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.538G>C | ENSP00000382323.2:p.Gly180Arg | |
| ENST00000399397.6:c.502G>C MANE Select | ENSP00000382329.2:p.Gly168Arg | |
| ENST00000399391.6:c.538G>C | ENSP00000382323.2:p.Gly180Arg | |
| ENST00000399397.5:c.502G>C | ENSP00000382329.2:p.Gly168Arg | |
| ENST00000498332.5:n.408G>C | ||
| NM_001277269.1:c.538G>C | NP_001264198.1:p.Gly180Arg | |
| NM_001292063.1:c.502G>C | NP_001278992.1:p.Gly168Arg | |
| NM_001277269.2:c.538G>C | NP_001264198.1:p.Gly180Arg | |
| NM_001292063.2:c.502G>C MANE Select | NP_001278992.1:p.Gly168Arg |