Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40848295T>G , CM000681.2:g.40848295T>G | GRCh38 |
| NC_000019.9:g.41354200T>G , CM000681.1:g.41354200T>G | GRCh37 |
| NC_000019.8:g.46046040T>G | NCBI36 |
| NG_008377.1:g.7153A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301141.10:c.578A>C MANE Select | ENSP00000301141.4:p.Tyr193Ser | |
| ENST00000301141.9:c.578A>C | ENSP00000301141.4:p.Tyr193Ser | |
| ENST00000596719.5:n.429A>C | ||
| ENST00000600495.1:c.*390A>C | ENSP00000472905.1:n.*390A>C | |
| ENST00000601627.1:c.120-43696T>G | ||
| ENST00000610301.1:c.578A>C | ENSP00000477899.1:p.Tyr193Ser | |
| NM_000762.5:c.578A>C | NP_000753.3:p.Tyr193Ser | |
| NM_000762.6:c.578A>C MANE Select | NP_000753.3:p.Tyr193Ser |