Linked Data
ClinVar Variation Id:
14961
ClinVar RCV Id:
RCV000016101
dbSNP Id:
rs34019507
gnomAD v4:
11-5254409-C-G
PubMed:
PMID:2442123
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5254409C>G , CM000673.2:g.5254409C>G | GRCh38 |
| NC_000011.9:g.5275639C>G , CM000673.1:g.5275639C>G | GRCh37 |
| NC_000011.8:g.5232215C>G | NCBI36 |
| NG_000007.3:g.43207G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336906.6:c.198G>C MANE Select | ENSP00000338082.4:p.Lys66Asn | |
| ENST00000380252.6:c.33G>C | ENSP00000369602.2:p.Lys11Asn | |
| ENST00000380259.7:c.1744G>C | ENSP00000369609.3:n.1744G>C | |
| ENST00000642908.1:c.198G>C | ENSP00000495346.1:p.Lys66Asn | |
| ENST00000647543.1:c.198G>C | ENSP00000496470.1:p.Lys66Asn | |
| ENST00000336906.4:c.198G>C | ENSP00000338082.4:p.Lys66Asn | |
| ENST00000380252.5:c.168G>C | ENSP00000369602.1:p.Lys56Asn | |
| ENST00000380259.6:c.198G>C | ENSP00000369609.2:p.Lys66Asn | |
| ENST00000444587.1:c.*67G>C | ENSP00000488218.1:n.*67G>C | |
| ENST00000620888.4:c.198G>C | ENSP00000479637.1:p.Lys66Asn | |
| ENST00000624109.1:c.157C>G | ENSP00000485458.1:p.Leu53Val | |
| NM_000184.2:c.198G>C | NP_000175.1:p.Lys66Asn | |
| NM_000184.3:c.198G>C MANE Select | NP_000175.1:p.Lys66Asn |