Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713439T>G , CM000681.2:g.6713439T>G | GRCh38 |
| NC_000019.9:g.6713450T>G , CM000681.1:g.6713450T>G | GRCh37 |
| NC_000019.8:g.6664450T>G | NCBI36 |
| NG_009557.1:g.12213A>C , LRG_27:g.12213A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.721A>C | ENSP00000512083.1:p.Ile241Leu | |
| ENST00000695692.1:n.168A>C | ||
| ENST00000245907.11:c.844A>C MANE Select | ENSP00000245907.4:p.Ile282Leu | |
| ENST00000245907.10:c.844A>C | ENSP00000245907.4:p.Ile282Leu | |
| ENST00000595577.1:n.348A>C | ||
| ENST00000597442.5:n.94A>C | ||
| NM_000064.3:c.844A>C | NP_000055.2:p.Ile282Leu | |
| NM_000064.4:c.844A>C MANE Select | NP_000055.2:p.Ile282Leu |