Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30993225G>C , CM000678.2:g.30993225G>C | GRCh38 |
| NC_000016.9:g.31004546G>C , CM000678.1:g.31004546G>C | GRCh37 |
| NC_000016.8:g.30912047G>C | NCBI36 |
| NG_041829.1:g.22284C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215095.11:c.691C>G MANE Select | ENSP00000215095.5:p.Arg231Gly | |
| ENST00000565419.2:c.691C>G | ENSP00000455899.1:p.Arg231Gly | |
| ENST00000215095.9:c.691C>G | ENSP00000215095.5:p.Arg231Gly | |
| ENST00000565419.1:c.691C>G | ENSP00000455899.1:p.Arg231Gly | |
| ENST00000569638.5:c.439C>G | ENSP00000457067.1:p.Arg147Gly | |
| NM_052874.4:c.691C>G | NP_443106.1:p.Arg231Gly | |
| XM_017022893.1:c.673C>G | XP_016878382.1:p.Arg225Gly | |
| NM_052874.5:c.691C>G MANE Select | NP_443106.1:p.Arg231Gly |