Linked Data
ClinVar Variation Id:
1480291
ClinVar RCV Id:
RCV001985901
dbSNP Id:
rs1567232255
gnomAD v2:
16-3294531-C-G
gnomAD v4:
16-3244531-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3244531C>G , CM000678.2:g.3244531C>G | GRCh38 |
| NC_000016.9:g.3294531C>G , CM000678.1:g.3294531C>G | GRCh37 |
| NC_000016.8:g.3234532C>G | NCBI36 |
| NG_007871.1:g.17097G>C , LRG_190:g.17097G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.789G>C | ||
| ENST00000219596.6:c.1668G>C MANE Select | ENSP00000219596.1:p.Lys556Asn | |
| ENST00000219596.5:c.1668G>C | ENSP00000219596.1:p.Lys556Asn | |
| ENST00000339854.8:c.1128G>C | ENSP00000339639.4:p.Lys376Asn | |
| ENST00000536379.5:c.1035G>C | ENSP00000445079.1:p.Lys345Asn | |
| ENST00000536980.5:c.1035G>C | ENSP00000444178.1:p.Lys345Asn | |
| ENST00000537682.5:c.1668G>C | ENSP00000438611.1:p.Lys556Asn | |
| ENST00000538326.5:c.*293G>C | ENSP00000437486.1:n.*293G>C | |
| ENST00000539145.5:c.589G>C | ENSP00000444471.1:n.589G>C | |
| ENST00000541159.5:c.1035G>C | ENSP00000438711.1:p.Lys345Asn | |
| ENST00000542898.5:c.1761G>C | ENSP00000444615.1:p.Lys587Asn | |
| ENST00000570511.5:c.1165-639G>C | ENSP00000458312.1:n.1165-639G>C | |
| ENST00000572244.5:c.358G>C | ENSP00000461186.1:n.358G>C | |
| ENST00000574583.5:c.532-639G>C | ENSP00000460269.1:n.532-639G>C | |
| ENST00000576315.5:c.532-245G>C | ENSP00000460551.1:n.532-245G>C | |
| ENST00000621655.1:c.1035G>C | ENSP00000481436.1:p.Lys345Asn | |
| NM_000243.2:c.1668G>C , LRG_190t1:c.1668G>C | NP_000234.1:p.Lys556Asn | |
| NM_001198536.1:c.1035G>C | NP_001185465.1:p.Lys345Asn | |
| XM_017023236.2:c.1665G>C | XP_016878725.1:p.Lys555Asn | |
| XR_001751903.1:n.1857G>C | ||
| NM_000243.3:c.1668G>C MANE Select | NP_000234.1:p.Lys556Asn | |
| NM_001198536.2:c.1035G>C | NP_001185465.2:p.Lys345Asn |