Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714046T>G , CM000681.2:g.6714046T>G | GRCh38 |
| NC_000019.9:g.6714057T>G , CM000681.1:g.6714057T>G | GRCh37 |
| NC_000019.8:g.6665057T>G | NCBI36 |
| NG_009557.1:g.11606A>C , LRG_27:g.11606A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.596A>C | ENSP00000512083.1:p.Glu199Ala | |
| ENST00000245907.11:c.719A>C MANE Select | ENSP00000245907.4:p.Glu240Ala | |
| ENST00000245907.10:c.719A>C | ENSP00000245907.4:p.Glu240Ala | |
| ENST00000595577.1:n.223A>C | ||
| NM_000064.3:c.719A>C | NP_000055.2:p.Glu240Ala | |
| NM_000064.4:c.719A>C MANE Select | NP_000055.2:p.Glu240Ala |