Linked Data
ClinVar Variation Id:
132643
dbSNP Id:
rs752513525
ExAC:
19:19637066 G / A
gnomAD v2:
19-19637066-G-A
gnomAD v3:
19-19526257-G-A
gnomAD v4:
19-19526257-G-A
PubMed:
PMID:25901006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.19526257G>A , CM000681.2:g.19526257G>A | GRCh38 |
| NC_000019.9:g.19637066G>A , CM000681.1:g.19637066G>A | GRCh37 |
| NC_000019.8:g.19498066G>A | NCBI36 |
| NG_013380.1:g.15048G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507754.9:c.170G>A MANE Select | ENSP00000423673.1:p.Arg57His | |
| ENST00000428459.6:c.170G>A | ENSP00000465129.1:p.Arg57His | |
| ENST00000502506.6:c.*3G>A | ENSP00000467274.2:n.*3G>A | |
| ENST00000503283.5:c.170G>A | ENSP00000468317.1:p.Arg57His | |
| ENST00000507754.8:c.170G>A | ENSP00000423673.1:p.Arg57His | |
| ENST00000511180.4:n.168G>A | ||
| ENST00000511584.2:n.179G>A | ||
| ENST00000555938.1:c.170G>A | ENSP00000452549.1:p.Arg57His | |
| ENST00000586674.1:n.180G>A | ||
| ENST00000606722.1:c.148G>A | ||
| NM_015965.6:c.170G>A | NP_057049.5:p.Arg57His | |
| NM_015965.7:c.170G>A MANE Select | NP_057049.5:p.Arg57His |