Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160247371A>G , CM000668.2:g.160247371A>G | GRCh38 |
| NC_000006.11:g.160668403A>G , CM000668.1:g.160668403A>G | GRCh37 |
| NC_000006.10:g.160588393A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366953.8:c.843-73T>C MANE Select | ENSP00000355920.3:n.843-73T>C | |
| ENST00000366952.1:c.780-73T>C | ENSP00000355919.1:n.780-73T>C | |
| ENST00000366953.7:c.843-73T>C | ENSP00000355920.3:n.843-73T>C | |
| ENST00000491092.1:n.740-73T>C | ||
| NM_003058.3:c.843-73T>C | NP_003049.2:n.843-73T>C | |
| NM_003058.4:c.843-73T>C MANE Select | NP_003049.2:n.843-73T>C |