Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160247269A>C , CM000668.2:g.160247269A>C | GRCh38 |
| NC_000006.11:g.160668301A>C , CM000668.1:g.160668301A>C | GRCh37 |
| NC_000006.10:g.160588291A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366953.8:c.872T>G MANE Select | ENSP00000355920.3:p.Ile291Ser | |
| ENST00000366952.1:c.809T>G | ENSP00000355919.1:p.Ile270Ser | |
| ENST00000366953.7:c.872T>G | ENSP00000355920.3:p.Ile291Ser | |
| ENST00000491092.1:n.769T>G | ||
| NM_003058.3:c.872T>G | NP_003049.2:p.Ile291Ser | |
| NM_003058.4:c.872T>G MANE Select | NP_003049.2:p.Ile291Ser |