Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2787500A>T , CM000686.2:g.2787500A>T | GRCh38 |
| NC_000024.9:g.2655541A>T , CM000686.1:g.2655541A>T | GRCh37 |
| NC_000024.8:g.2715541A>T | NCBI36 |
| NG_011751.1:g.5252T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000679518.1:n.106+12761A>T | ||
| ENST00000679825.1:n.612A>T | ||
| ENST00000680285.1:n.320-2249A>T | ||
| ENST00000680845.1:n.186A>T | ||
| ENST00000681787.1:n.106+12761A>T | ||
| ENST00000681940.1:n.106+12761A>T | ||
| ENST00000383070.2:c.104T>A MANE Select | ENSP00000372547.1:p.Leu35His | |
| ENST00000383070.1:c.104T>A | ENSP00000372547.1:p.Leu35His | |
| NM_003140.2:c.104T>A | NP_003131.1:p.Leu35His | |
| NM_003140.3:c.104T>A MANE Select | NP_003131.1:p.Leu35His |