Linked Data
ClinVar Variation Id:
30349
ClinVar RCV Id:
RCV000030951
dbSNP Id:
rs587777835
ExAC:
1:204159690 G / C
gnomAD v2:
1-204159690-G-C
gnomAD v4:
1-204190562-G-C
PubMed:
PMID:22335740
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190562G>C , CM000663.2:g.204190562G>C | GRCh38 |
| NC_000001.10:g.204159690G>C , CM000663.1:g.204159690G>C | GRCh37 |
| NC_000001.9:g.202426313G>C | NCBI36 |
| NG_032151.1:g.10930C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367194.5:c.339C>G MANE Select | ENSP00000356162.4:p.Asn113Lys | |
| ENST00000367194.4:c.339C>G | ENSP00000356162.4:p.Asn113Lys | |
| ENST00000625357.1:c.339C>G | ENSP00000485957.1:p.Asn113Lys | |
| NM_002256.3:c.339C>G | NP_002247.3:p.Asn113Lys | |
| XM_011509525.1:c.339C>G | XP_011507827.1:p.Asn113Lys | |
| NM_002256.4:c.339C>G MANE Select | NP_002247.3:p.Asn113Lys |