Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160247264G>A , CM000668.2:g.160247264G>A | GRCh38 |
| NC_000006.11:g.160668296G>A , CM000668.1:g.160668296G>A | GRCh37 |
| NC_000006.10:g.160588286G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366953.8:c.877C>T MANE Select | ENSP00000355920.3:p.Gln293Ter | |
| ENST00000366952.1:c.814C>T | ENSP00000355919.1:p.Gln272Ter | |
| ENST00000366953.7:c.877C>T | ENSP00000355920.3:p.Gln293Ter | |
| ENST00000491092.1:n.774C>T | ||
| NM_003058.3:c.877C>T | NP_003049.2:p.Gln293Ter | |
| NM_003058.4:c.877C>T MANE Select | NP_003049.2:p.Gln293Ter |