Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046393G>C , CM000667.2:g.136046393G>C | GRCh38 |
| NC_000005.9:g.135382082G>C , CM000667.1:g.135382082G>C | GRCh37 |
| NC_000005.8:g.135409981G>C | NCBI36 |
| NG_012646.1:g.22499G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.357G>C MANE Select | ENSP00000416330.2:p.Gln119His | |
| ENST00000442011.6:c.357G>C | ENSP00000416330.2:p.Gln119His | |
| ENST00000504185.5:n.514G>C | ||
| ENST00000506699.5:n.422G>C | ||
| ENST00000507018.5:c.274G>C | ||
| ENST00000515433.1:n.649G>C | ||
| NM_000358.2:c.357G>C | NP_000349.1:p.Gln119His | |
| NM_000358.3:c.357G>C MANE Select | NP_000349.1:p.Gln119His |