Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529686A>C , CM000681.2:g.7529686A>C | GRCh38 |
| NC_000019.9:g.7594572A>C , CM000681.1:g.7594572A>C | GRCh37 |
| NC_000019.8:g.7500572A>C | NCBI36 |
| NG_013374.1:g.535A>C | |
| NG_015806.1:g.12077A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1333A>C MANE Select | ENSP00000264079.5:p.Ile445Leu | |
| ENST00000264079.10:c.1333A>C | ENSP00000264079.5:p.Ile445Leu | |
| ENST00000394321.9:n.1648A>C | ||
| ENST00000594692.1:n.329A>C | ||
| ENST00000595860.5:n.516A>C | ||
| ENST00000599334.1:c.210A>C | ||
| NM_020533.2:c.1333A>C | NP_065394.1:p.Ile445Leu | |
| NM_020533.3:c.1333A>C MANE Select | NP_065394.1:p.Ile445Leu |