Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135031394T>A , CM000667.2:g.135031394T>A | GRCh38 |
| NC_000005.9:g.134367084T>A , CM000667.1:g.134367084T>A | GRCh37 |
| NC_000005.8:g.134394983T>A | NCBI36 |
| NG_012114.1:g.7881A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.284A>T MANE Select | ENSP00000265340.6:p.His95Leu | |
| ENST00000265340.11:c.284A>T | ENSP00000265340.6:p.His95Leu | |
| ENST00000502676.1:c.284A>T | ENSP00000423624.1:p.His95Leu | |
| ENST00000503586.1:c.406A>T | ||
| ENST00000504936.1:n.617A>T | ||
| ENST00000506438.5:c.284A>T | ENSP00000427542.1:p.His95Leu | |
| ENST00000507253.5:c.284A>T | ENSP00000422908.1:p.His95Leu | |
| NM_002653.4:c.284A>T | NP_002644.4:p.His95Leu | |
| NM_002653.5:c.284A>T MANE Select | NP_002644.4:p.His95Leu |