Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713426T>G , CM000681.2:g.6713426T>G | GRCh38 |
| NC_000019.9:g.6713437T>G , CM000681.1:g.6713437T>G | GRCh37 |
| NC_000019.8:g.6664437T>G | NCBI36 |
| NG_009557.1:g.12226A>C , LRG_27:g.12226A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.734A>C | ENSP00000512083.1:p.Glu245Ala | |
| ENST00000695692.1:n.181A>C | ||
| ENST00000245907.11:c.857A>C MANE Select | ENSP00000245907.4:p.Glu286Ala | |
| ENST00000245907.10:c.857A>C | ENSP00000245907.4:p.Glu286Ala | |
| ENST00000595577.1:n.361A>C | ||
| ENST00000597442.5:n.107A>C | ||
| NM_000064.3:c.857A>C | NP_000055.2:p.Glu286Ala | |
| NM_000064.4:c.857A>C MANE Select | NP_000055.2:p.Glu286Ala |