Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19960942A>C , CM000670.2:g.19960942A>C | GRCh38 |
| NC_000008.10:g.19818453A>C , CM000670.1:g.19818453A>C | GRCh37 |
| NC_000008.9:g.19862733A>C | NCBI36 |
| NG_008855.1:g.26872A>C | |
| NG_008855.2:g.64226A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.1181A>C MANE Select | ENSP00000497642.1:p.Tyr394Ser | |
| ENST00000650478.1:c.121A>C | ENSP00000497560.1:n.121A>C | |
| ENST00000311322.8:c.1181A>C | ENSP00000309757.6:p.Tyr394Ser | |
| NM_000237.2:c.1181A>C | NP_000228.1:p.Tyr394Ser | |
| NM_000237.3:c.1181A>C MANE Select | NP_000228.1:p.Tyr394Ser |