Linked Data
ClinVar Variation Id:
64681
ClinVar RCV Id:
RCV000054832
dbSNP Id:
rs587777030
ExAC:
16:3075805 G / A
gnomAD v2:
16-3075805-G-A
gnomAD v3:
16-3025804-G-A
gnomAD v4:
16-3025804-G-A
PubMed:
PMID:23621916
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3025804G>A , CM000678.2:g.3025804G>A | GRCh38 |
| NC_000016.9:g.3075805G>A , CM000678.1:g.3075805G>A | GRCh37 |
| NC_000016.8:g.3015806G>A | NCBI36 |
| NG_052595.1:g.6786G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326266.13:c.136G>A MANE Select | ENSP00000326531.8:p.Gly46Arg | |
| ENST00000253952.9:c.136G>A | ENSP00000253952.9:p.Gly46Arg | |
| ENST00000326266.12:c.136G>A | ENSP00000326531.8:p.Gly46Arg | |
| ENST00000571046.1:n.325G>A | ||
| ENST00000571057.5:n.420G>A | ||
| ENST00000573704.5:n.402G>A | ||
| ENST00000574498.5:n.403G>A | ||
| ENST00000574549.5:c.64G>A | ENSP00000458295.1:p.Gly22Arg | |
| ENST00000574957.1:n.432G>A | ||
| ENST00000575576.5:c.64G>A | ENSP00000460015.1:p.Gly22Arg | |
| ENST00000576143.5:n.436G>A | ||
| NM_001142350.1:c.136G>A | NP_001135822.1:p.Gly46Arg | |
| NM_024339.3:c.136G>A | NP_077315.2:p.Gly46Arg | |
| NM_001142350.2:c.136G>A | NP_001135822.1:p.Gly46Arg | |
| NM_001347703.1:c.64G>A | NP_001334632.1:p.Gly22Arg | |
| NM_001347704.1:c.136G>A | NP_001334633.1:p.Gly46Arg | |
| NM_024339.4:c.136G>A | NP_077315.2:p.Gly46Arg | |
| NM_024339.5:c.136G>A MANE Select | NP_077315.2:p.Gly46Arg | |
| NM_001142350.3:c.136G>A | NP_001135822.1:p.Gly46Arg | |
| NM_001347703.2:c.64G>A | NP_001334632.1:p.Gly22Arg | |
| NM_001347704.2:c.136G>A | NP_001334633.1:p.Gly46Arg |