Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42185686C>G , CM000668.2:g.42185686C>G | GRCh38 |
| NC_000006.11:g.42153424C>G , CM000668.1:g.42153424C>G | GRCh37 |
| NC_000006.10:g.42261402C>G | NCBI36 |
| NG_016216.1:g.14271G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230361.4:c.469G>C MANE Select | ENSP00000230361.3:p.Gly157Arg | |
| ENST00000230361.3:c.469G>C | ENSP00000230361.3:p.Gly157Arg | |
| NM_002098.5:c.469G>C | NP_002089.4:p.Gly157Arg | |
| XM_011514540.1:c.265G>C | XP_011512842.1:p.Gly89Arg | |
| NM_002098.6:c.469G>C MANE Select | NP_002089.4:p.Gly157Arg |