Linked Data
ClinVar Variation Id:
457995
dbSNP Id:
rs11466024
gnomAD v2:
16-3299468-C-A
gnomAD v3:
16-3249468-C-A
gnomAD v4:
16-3249468-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3249468C>A , CM000678.2:g.3249468C>A | GRCh38 |
| NC_000016.9:g.3299468C>A , CM000678.1:g.3299468C>A | GRCh37 |
| NC_000016.8:g.3239469C>A | NCBI36 |
| NG_007871.1:g.12160G>T , LRG_190:g.12160G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219596.6:c.1223G>T MANE Select | ENSP00000219596.1:p.Arg408Leu | |
| ENST00000219596.5:c.1223G>T | ENSP00000219596.1:p.Arg408Leu | |
| ENST00000339854.8:c.683G>T | ENSP00000339639.4:p.Arg228Leu | |
| ENST00000536379.5:c.590G>T | ENSP00000445079.1:p.Arg197Leu | |
| ENST00000536980.5:c.590G>T | ENSP00000444178.1:p.Arg197Leu | |
| ENST00000537682.5:c.1223G>T | ENSP00000438611.1:p.Arg408Leu | |
| ENST00000538326.5:c.1223G>T | ENSP00000437486.1:p.Arg408Leu | |
| ENST00000539145.5:c.278-2222G>T | ENSP00000444471.1:n.278-2222G>T | |
| ENST00000541159.5:c.590G>T | ENSP00000438711.1:p.Arg197Leu | |
| ENST00000542898.5:c.1316G>T | ENSP00000444615.1:p.Arg439Leu | |
| ENST00000570511.5:c.911-2222G>T | ENSP00000458312.1:n.911-2222G>T | |
| ENST00000572244.5:c.278-2921G>T | ENSP00000461186.1:n.278-2921G>T | |
| ENST00000574583.5:c.278-2222G>T | ENSP00000460269.1:n.278-2222G>T | |
| ENST00000576315.5:c.278-2222G>T | ENSP00000460551.1:n.278-2222G>T | |
| ENST00000621655.1:c.590G>T | ENSP00000481436.1:p.Arg197Leu | |
| NM_000243.2:c.1223G>T , LRG_190t1:c.1223G>T | NP_000234.1:p.Arg408Leu | |
| NM_001198536.1:c.590G>T | NP_001185465.1:p.Arg197Leu | |
| XM_017023236.2:c.1223G>T | XP_016878725.1:p.Arg408Leu | |
| XR_001751903.1:n.1412G>T | ||
| NM_000243.3:c.1223G>T MANE Select | NP_000234.1:p.Arg408Leu | |
| NM_001198536.2:c.590G>T | NP_001185465.2:p.Arg197Leu |