Linked Data
ClinVar Variation Id:
1175238
ClinVar RCV Id:
RCV001530270
dbSNP Id:
rs745427463
ExAC:
6:42690035 C / T
gnomAD v2:
6-42690035-C-T
gnomAD v4:
6-42722297-C-T
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42722297C>T , CM000668.2:g.42722297C>T | GRCh38 |
| NC_000006.11:g.42690035C>T , CM000668.1:g.42690035C>T | GRCh37 |
| NC_000006.10:g.42798013C>T | NCBI36 |
| NG_009176.1:g.5324G>A | |
| NG_009176.2:g.5324G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.38G>A MANE Select | ENSP00000230381.5:p.Arg13Gln | |
| ENST00000230381.6:c.38G>A | ENSP00000230381.5:p.Arg13Gln | |
| NM_000322.4:c.38G>A | NP_000313.2:p.Arg13Gln | |
| XR_427834.2:n.693G>A | ||
| XR_926295.1:n.693G>A | ||
| XR_427834.4:n.743G>A | ||
| XR_926295.3:n.743G>A | ||
| NM_000322.5:c.38G>A MANE Select | NP_000313.2:p.Arg13Gln |