Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046479G>C , CM000667.2:g.136046479G>C | GRCh38 |
| NC_000005.9:g.135382168G>C , CM000667.1:g.135382168G>C | GRCh37 |
| NC_000005.8:g.135410067G>C | NCBI36 |
| NG_012646.1:g.22585G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.443G>C MANE Select | ENSP00000416330.2:p.Trp148Ser | |
| ENST00000442011.6:c.443G>C | ENSP00000416330.2:p.Trp148Ser | |
| ENST00000506699.5:n.508G>C | ||
| ENST00000507018.5:c.360G>C | ||
| ENST00000515433.1:n.735G>C | ||
| NM_000358.2:c.443G>C | NP_000349.1:p.Trp148Ser | |
| NM_000358.3:c.443G>C MANE Select | NP_000349.1:p.Trp148Ser |