Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160247268G>C , CM000668.2:g.160247268G>C | GRCh38 |
| NC_000006.11:g.160668300G>C , CM000668.1:g.160668300G>C | GRCh37 |
| NC_000006.10:g.160588290G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366953.8:c.873C>G MANE Select | ENSP00000355920.3:p.Ile291Met | |
| ENST00000366952.1:c.810C>G | ENSP00000355919.1:p.Ile270Met | |
| ENST00000366953.7:c.873C>G | ENSP00000355920.3:p.Ile291Met | |
| ENST00000491092.1:n.770C>G | ||
| NM_003058.3:c.873C>G | NP_003049.2:p.Ile291Met | |
| NM_003058.4:c.873C>G MANE Select | NP_003049.2:p.Ile291Met |