Linked Data
ClinVar Variation Id:
3045997
ClinVar RCV Id:
RCV003934456
dbSNP Id:
rs570064523
ExAC:
5:95728891 C / G
gnomAD v2:
5-95728891-C-G
gnomAD v3:
5-96393187-C-G
gnomAD v4:
5-96393187-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96393187C>G , CM000667.2:g.96393187C>G | GRCh38 |
| NC_000005.9:g.95728891C>G , CM000667.1:g.95728891C>G | GRCh37 |
| NC_000005.8:g.95754647C>G | NCBI36 |
| NG_021161.1:g.45095G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.2076G>C MANE Select | ENSP00000308024.2:p.Lys692Asn | |
| ENST00000311106.7:c.2076G>C | ENSP00000308024.2:p.Lys692Asn | |
| ENST00000508626.5:c.1935G>C | ENSP00000421600.1:p.Lys645Asn | |
| ENST00000513085.1:n.1219G>C | ||
| NM_000439.4:c.2076G>C | NP_000430.3:p.Lys692Asn | |
| NM_001177875.1:c.1935G>C | NP_001171346.1:p.Lys645Asn | |
| NR_130776.1:n.354+13535C>G | ||
| NM_000439.5:c.2076G>C MANE Select | NP_000430.3:p.Lys692Asn | |
| NM_001177875.2:c.1935G>C | NP_001171346.1:p.Lys645Asn |