Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046346T>C , CM000667.2:g.136046346T>C | GRCh38 |
| NC_000005.9:g.135382035T>C , CM000667.1:g.135382035T>C | GRCh37 |
| NC_000005.8:g.135409934T>C | NCBI36 |
| NG_012646.1:g.22452T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.310T>C MANE Select | ENSP00000416330.2:p.Ser104Pro | |
| ENST00000442011.6:c.310T>C | ENSP00000416330.2:p.Ser104Pro | |
| ENST00000504185.5:n.467T>C | ||
| ENST00000506699.5:n.375T>C | ||
| ENST00000507018.5:c.227T>C | ||
| ENST00000515433.1:n.602T>C | ||
| NM_000358.2:c.310T>C | NP_000349.1:p.Ser104Pro | |
| NM_000358.3:c.310T>C MANE Select | NP_000349.1:p.Ser104Pro |