Linked Data
ClinVar Variation Id:
369971
ClinVar RCV Id:
RCV001269727
dbSNP Id:
rs1057516210
gnomAD v4:
16-3244283-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3244283G>T , CM000678.2:g.3244283G>T | GRCh38 |
| NC_000016.9:g.3294283G>T , CM000678.1:g.3294283G>T | GRCh37 |
| NC_000016.8:g.3234284G>T | NCBI36 |
| NG_007871.1:g.17345C>A , LRG_190:g.17345C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697124.1:n.851C>A | ||
| ENST00000219596.6:c.1730C>A MANE Select | ENSP00000219596.1:p.Thr577Asn | |
| ENST00000219596.5:c.1730C>A | ENSP00000219596.1:p.Thr577Asn | |
| ENST00000339854.8:c.1190C>A | ENSP00000339639.4:p.Thr397Asn | |
| ENST00000536379.5:c.1097C>A | ENSP00000445079.1:p.Thr366Asn | |
| ENST00000536980.5:c.1097C>A | ENSP00000444178.1:p.Thr366Asn | |
| ENST00000537682.5:c.1730C>A | ENSP00000438611.1:p.Thr577Asn | |
| ENST00000538326.5:c.*355C>A | ENSP00000437486.1:n.*355C>A | |
| ENST00000539145.5:c.651C>A | ENSP00000444471.1:n.651C>A | |
| ENST00000541159.5:c.1097C>A | ENSP00000438711.1:p.Thr366Asn | |
| ENST00000542898.5:c.1823C>A | ENSP00000444615.1:p.Thr608Asn | |
| ENST00000570511.5:c.1165-391C>A | ENSP00000458312.1:n.1165-391C>A | |
| ENST00000572244.5:c.420C>A | ENSP00000461186.1:n.420C>A | |
| ENST00000574583.5:c.532-391C>A | ENSP00000460269.1:n.532-391C>A | |
| ENST00000576315.5:c.535C>A | ENSP00000460551.1:n.535C>A | |
| ENST00000621655.1:c.1097C>A | ENSP00000481436.1:p.Thr366Asn | |
| NM_000243.2:c.1730C>A , LRG_190t1:c.1730C>A | NP_000234.1:p.Thr577Asn | |
| NM_001198536.1:c.1097C>A | NP_001185465.1:p.Thr366Asn | |
| XM_017023236.2:c.1727C>A | XP_016878725.1:p.Thr576Asn | |
| XR_001751903.1:n.1919C>A | ||
| NM_000243.3:c.1730C>A MANE Select | NP_000234.1:p.Thr577Asn | |
| NM_001198536.2:c.1097C>A | NP_001185465.2:p.Thr366Asn |