Linked Data
ClinVar Variation Id:
437959
dbSNP Id:
rs771450991
ExAC:
19:48339518 G / A
gnomAD v2:
19-48339518-G-A
gnomAD v4:
19-47836261-G-A
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47836261G>A , CM000681.2:g.47836261G>A | GRCh38 |
| NC_000019.9:g.48339518G>A , CM000681.1:g.48339518G>A | GRCh37 |
| NC_000019.8:g.53031330G>A | NCBI36 |
| NG_008605.1:g.19420G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221996.12:c.119G>A MANE Select | ENSP00000221996.5:p.Arg40Gln | |
| ENST00000221996.11:c.119G>A | ENSP00000221996.5:p.Arg40Gln | |
| ENST00000539067.5:c.119G>A | ENSP00000445565.1:p.Arg40Gln | |
| ENST00000556527.1:n.96G>A | ||
| ENST00000566686.5:c.119G>A | ENSP00000457808.2:p.Arg40Gln | |
| ENST00000613299.1:c.100+1718G>A | ENSP00000478106.1:n.100+1718G>A | |
| NM_000554.4:c.119G>A | NP_000545.1:p.Arg40Gln | |
| NM_000554.5:c.119G>A | NP_000545.1:p.Arg40Gln | |
| NM_000554.6:c.119G>A MANE Select | NP_000545.1:p.Arg40Gln |