Linked Data
ClinVar Variation Id:
439884
dbSNP Id:
rs142775938
ExAC:
16:3298878 C / A
gnomAD v2:
16-3298878-C-A
gnomAD v3:
16-3248878-C-A
gnomAD v4:
16-3248878-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3248878C>A , CM000678.2:g.3248878C>A | GRCh38 |
| NC_000016.9:g.3298878C>A , CM000678.1:g.3298878C>A | GRCh37 |
| NC_000016.8:g.3238879C>A | NCBI36 |
| NG_007871.1:g.12750G>T , LRG_190:g.12750G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219596.6:c.1356+31G>T MANE Select | ENSP00000219596.1:n.1356+31G>T | |
| ENST00000219596.5:c.1356+31G>T | ENSP00000219596.1:n.1356+31G>T | |
| ENST00000339854.8:c.816+31G>T | ENSP00000339639.4:n.816+31G>T | |
| ENST00000536379.5:c.723+31G>T | ENSP00000445079.1:n.723+31G>T | |
| ENST00000536980.5:c.723+31G>T | ENSP00000444178.1:n.723+31G>T | |
| ENST00000537682.5:c.1356+31G>T | ENSP00000438611.1:n.1356+31G>T | |
| ENST00000538326.5:c.1356+31G>T | ENSP00000437486.1:n.1356+31G>T | |
| ENST00000539145.5:c.278-1632G>T | ENSP00000444471.1:n.278-1632G>T | |
| ENST00000541159.5:c.723+31G>T | ENSP00000438711.1:n.723+31G>T | |
| ENST00000542898.5:c.1449+31G>T | ENSP00000444615.1:n.1449+31G>T | |
| ENST00000570511.5:c.911-1632G>T | ENSP00000458312.1:n.911-1632G>T | |
| ENST00000572244.5:c.278-2331G>T | ENSP00000461186.1:n.278-2331G>T | |
| ENST00000574583.5:c.278-1632G>T | ENSP00000460269.1:n.278-1632G>T | |
| ENST00000576315.5:c.278-1632G>T | ENSP00000460551.1:n.278-1632G>T | |
| ENST00000621655.1:c.723+31G>T | ENSP00000481436.1:n.723+31G>T | |
| NM_000243.2:c.1356+31G>T , LRG_190t1:c.1356+31G>T | NP_000234.1:n.1356+31G>T | |
| NM_001198536.1:c.723+31G>T | NP_001185465.1:n.723+31G>T | |
| XM_017023236.2:c.1353+31G>T | XP_016878725.1:n.1353+31G>T | |
| XR_001751903.1:n.1545+31G>T | ||
| NM_000243.3:c.1356+31G>T MANE Select | NP_000234.1:n.1356+31G>T | |
| NM_001198536.2:c.723+31G>T | NP_001185465.2:n.723+31G>T |