Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713467G>C , CM000681.2:g.6713467G>C | GRCh38 |
| NC_000019.9:g.6713478G>C , CM000681.1:g.6713478G>C | GRCh37 |
| NC_000019.8:g.6664478G>C | NCBI36 |
| NG_009557.1:g.12185C>G , LRG_27:g.12185C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.693C>G | ENSP00000512083.1:p.Ile231Met | |
| ENST00000695692.1:n.140C>G | ||
| ENST00000245907.11:c.816C>G MANE Select | ENSP00000245907.4:p.Ile272Met | |
| ENST00000245907.10:c.816C>G | ENSP00000245907.4:p.Ile272Met | |
| ENST00000595577.1:n.320C>G | ||
| ENST00000597442.5:n.66C>G | ||
| NM_000064.3:c.816C>G | NP_000055.2:p.Ile272Met | |
| NM_000064.4:c.816C>G MANE Select | NP_000055.2:p.Ile272Met |