Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.13875007C>G , CM000665.2:g.13875007C>G | GRCh38 |
| NC_000003.11:g.13916504C>G , CM000665.1:g.13916504C>G | GRCh37 |
| NC_000003.10:g.13891505C>G | NCBI36 |
| NG_008088.1:g.10115G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285018.5:c.238G>C MANE Select | ENSP00000285018.4:p.Gly80Arg | |
| ENST00000285018.4:c.238G>C | ENSP00000285018.4:p.Gly80Arg | |
| ENST00000489346.1:n.107G>C | ||
| ENST00000497808.1:n.470G>C | ||
| NM_004625.3:c.238G>C | NP_004616.2:p.Gly80Arg | |
| XM_011534090.1:c.37G>C | XP_011532392.1:p.Gly13Arg | |
| XM_011534091.1:c.37G>C | XP_011532393.1:p.Gly13Arg | |
| XM_011534091.2:c.37G>C | XP_011532393.1:p.Gly13Arg | |
| NM_004625.4:c.238G>C MANE Select | NP_004616.2:p.Gly80Arg |