Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709751A>G , CM000681.2:g.6709751A>G | GRCh38 |
| NC_000019.9:g.6709762A>G , CM000681.1:g.6709762A>G | GRCh37 |
| NC_000019.8:g.6660762A>G | NCBI36 |
| NG_009557.1:g.15901T>C , LRG_27:g.15901T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1655T>C | ENSP00000512083.1:p.Val552Ala | |
| ENST00000695654.1:c.902T>C | ENSP00000512085.1:p.Val301Ala | |
| ENST00000695655.1:c.719T>C | ENSP00000512086.1:n.719T>C | |
| ENST00000695692.1:n.1142T>C | ||
| ENST00000245907.11:c.1778T>C MANE Select | ENSP00000245907.4:p.Val593Ala | |
| ENST00000245907.10:c.1778T>C | ENSP00000245907.4:p.Val593Ala | |
| NM_000064.3:c.1778T>C | NP_000055.2:p.Val593Ala | |
| NM_000064.4:c.1778T>C MANE Select | NP_000055.2:p.Val593Ala |