Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.182838482C>T , CM000664.2:g.182838482C>T | GRCh38 |
| NC_000002.11:g.183703210C>T , CM000664.1:g.183703210C>T | GRCh37 |
| NC_000002.10:g.183411455C>T | NCBI36 |
| NG_017197.1:g.33289G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295113.5:c.724G>A MANE Select | ENSP00000295113.4:p.Gly242Ser | |
| ENST00000295113.4:c.724G>A | ENSP00000295113.4:p.Gly242Ser | |
| NM_001463.3:c.724G>A | NP_001454.2:p.Gly242Ser | |
| NM_001463.4:c.724G>A MANE Select | NP_001454.2:p.Gly242Ser |