Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123630227A>T , CM000674.2:g.123630227A>T | GRCh38 |
| NC_000012.11:g.124114774A>T , CM000674.1:g.124114774A>T | GRCh37 |
| NC_000012.10:g.122680727A>T | NCBI36 |
| NG_015862.1:g.8550T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424014.7:c.311T>A MANE Select | ENSP00000416250.2:p.Ile104Lys | |
| ENST00000424014.6:c.311T>A | ENSP00000416250.2:p.Ile104Lys | |
| ENST00000452159.6:n.442T>A | ||
| ENST00000534960.5:c.358T>A | ||
| ENST00000537073.1:c.311T>A | ENSP00000444183.1:p.Ile104Lys | |
| ENST00000539951.5:c.272T>A | ENSP00000438060.1:p.Ile91Lys | |
| NM_001414.3:c.311T>A | NP_001405.1:p.Ile104Lys | |
| NM_001414.4:c.311T>A MANE Select | NP_001405.1:p.Ile104Lys |