Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.93227466T>C , CM000675.2:g.93227466T>C | GRCh38 |
| NC_000013.10:g.93879719T>C , CM000675.1:g.93879719T>C | GRCh37 |
| NC_000013.9:g.92677720T>C | NCBI36 |
| NG_011880.1:g.5642T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377047.9:c.10T>C MANE Select | ENSP00000366246.3:p.Trp4Arg | |
| ENST00000377047.8:c.10T>C | ENSP00000366246.3:p.Trp4Arg | |
| NM_005708.3:c.10T>C | NP_005699.1:p.Trp4Arg | |
| NM_005708.4:c.10T>C | NP_005699.1:p.Trp4Arg | |
| NM_005708.5:c.10T>C MANE Select | NP_005699.1:p.Trp4Arg |