Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81646470A>C , CM000665.2:g.81646470A>C | GRCh38 |
| NC_000003.11:g.81695621A>C , CM000665.1:g.81695621A>C | GRCh37 |
| NC_000003.10:g.81778311A>C | NCBI36 |
| NG_011810.1:g.120331T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.704T>G MANE Select | ENSP00000410833.2:p.Ile235Ser | |
| ENST00000429644.6:c.704T>G | ENSP00000410833.2:p.Ile235Ser | |
| ENST00000489715.1:c.581T>G | ENSP00000419638.1:p.Ile194Ser | |
| ENST00000498468.1:n.254T>G | ||
| NM_000158.3:c.704T>G | NP_000149.3:p.Ile235Ser | |
| NM_000158.4:c.704T>G MANE Select | NP_000149.4:p.Ile235Ser |