ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2787267C>T , CM000686.2:g.2787267C>T | GRCh38 |
| NC_000024.9:g.2655308C>T , CM000686.1:g.2655308C>T | GRCh37 |
| NC_000024.8:g.2715308C>T | NCBI36 |
| NG_011751.1:g.5485G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679518.1:n.106+12528C>T | ||
| ENST00000679825.1:n.379C>T | ||
| ENST00000680285.1:n.320-2482C>T | ||
| ENST00000680845.1:n.166-213C>T | ||
| ENST00000681787.1:n.106+12528C>T | ||
| ENST00000681940.1:n.106+12528C>T | ||
| ENST00000383070.2:c.337G>A MANE Select | ENSP00000372547.1:p.Ala113Thr | |
| ENST00000383070.1:c.337G>A | ENSP00000372547.1:p.Ala113Thr | |
| NM_003140.2:c.337G>A | NP_003131.1:p.Ala113Thr | |
| NM_003140.3:c.337G>A MANE Select | NP_003131.1:p.Ala113Thr |