Linked Data
ClinVar Variation Id:
1502875
ClinVar RCV Id:
RCV002011109
dbSNP Id:
rs1332262848
gnomAD v2:
16-3304278-C-T
gnomAD v4:
16-3254278-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3254278C>T , CM000678.2:g.3254278C>T | GRCh38 |
| NC_000016.9:g.3304278C>T , CM000678.1:g.3304278C>T | GRCh37 |
| NC_000016.8:g.3244279C>T | NCBI36 |
| NG_007871.1:g.7350G>A , LRG_190:g.7350G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219596.6:c.790G>A MANE Select | ENSP00000219596.1:p.Glu264Lys | |
| ENST00000219596.5:c.790G>A | ENSP00000219596.1:p.Glu264Lys | |
| ENST00000339854.8:c.277+2033G>A | ENSP00000339639.4:n.277+2033G>A | |
| ENST00000536379.5:c.277+2033G>A | ENSP00000445079.1:n.277+2033G>A | |
| ENST00000536980.5:c.277+2033G>A | ENSP00000444178.1:n.277+2033G>A | |
| ENST00000537682.5:c.790G>A | ENSP00000438611.1:p.Glu264Lys | |
| ENST00000538326.5:c.790G>A | ENSP00000437486.1:p.Glu264Lys | |
| ENST00000539145.5:c.277+2033G>A | ENSP00000444471.1:n.277+2033G>A | |
| ENST00000541159.5:c.277+2033G>A | ENSP00000438711.1:n.277+2033G>A | |
| ENST00000542898.5:c.790G>A | ENSP00000444615.1:p.Glu264Lys | |
| ENST00000570511.5:c.790G>A | ENSP00000458312.1:p.Glu264Lys | |
| ENST00000572244.5:c.277+2033G>A | ENSP00000461186.1:n.277+2033G>A | |
| ENST00000574583.5:c.277+2033G>A | ENSP00000460269.1:n.277+2033G>A | |
| ENST00000576315.5:c.277+2033G>A | ENSP00000460551.1:n.277+2033G>A | |
| ENST00000621655.1:c.277+2033G>A | ENSP00000481436.1:n.277+2033G>A | |
| NM_000243.2:c.790G>A , LRG_190t1:c.790G>A | NP_000234.1:p.Glu264Lys | |
| NM_001198536.1:c.277+2033G>A | NP_001185465.1:n.277+2033G>A | |
| XM_017023236.2:c.790G>A | XP_016878725.1:p.Glu264Lys | |
| XR_001751903.1:n.979G>A | ||
| NM_000243.3:c.790G>A MANE Select | NP_000234.1:p.Glu264Lys | |
| NM_001198536.2:c.277+2033G>A | NP_001185465.2:n.277+2033G>A |