Linked Data
ClinVar Variation Id:
319111
ClinVar RCV Id:
RCV000286090
dbSNP Id:
rs199937453
gnomAD v3:
16-3247081-G-A
gnomAD v4:
16-3247081-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3247081G>A , CM000678.2:g.3247081G>A | GRCh38 |
| NC_000016.9:g.3297081G>A , CM000678.1:g.3297081G>A | GRCh37 |
| NC_000016.8:g.3237082G>A | NCBI36 |
| NG_007871.1:g.14547C>T , LRG_190:g.14547C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219596.6:c.1522C>T MANE Select | ENSP00000219596.1:p.Leu508= | |
| ENST00000219596.5:c.1522C>T | ENSP00000219596.1:p.Leu508= | |
| ENST00000339854.8:c.982C>T | ENSP00000339639.4:p.Leu328= | |
| ENST00000536379.5:c.889C>T | ENSP00000445079.1:p.Leu297= | |
| ENST00000536980.5:c.889C>T | ENSP00000444178.1:p.Leu297= | |
| ENST00000537682.5:c.1522C>T | ENSP00000438611.1:p.Leu508= | |
| ENST00000538326.5:c.*147C>T | ENSP00000437486.1:n.*147C>T | |
| ENST00000539145.5:c.443C>T | ENSP00000444471.1:n.443C>T | |
| ENST00000539154.1:n.887C>T | ||
| ENST00000541159.5:c.889C>T | ENSP00000438711.1:p.Leu297= | |
| ENST00000542898.5:c.1615C>T | ENSP00000444615.1:p.Leu539= | |
| ENST00000570511.5:c.1076C>T | ENSP00000458312.1:n.1076C>T | |
| ENST00000572244.5:c.278-534C>T | ENSP00000461186.1:n.278-534C>T | |
| ENST00000574583.5:c.443C>T | ENSP00000460269.1:n.443C>T | |
| ENST00000576315.5:c.443C>T | ENSP00000460551.1:n.443C>T | |
| ENST00000621655.1:c.889C>T | ENSP00000481436.1:p.Leu297= | |
| NM_000243.2:c.1522C>T , LRG_190t1:c.1522C>T | NP_000234.1:p.Leu508= | |
| NM_001198536.1:c.889C>T | NP_001185465.1:p.Leu297= | |
| XM_017023236.2:c.1519C>T | XP_016878725.1:p.Leu507= | |
| XR_001751903.1:n.1711C>T | ||
| NM_000243.3:c.1522C>T MANE Select | NP_000234.1:p.Leu508= | |
| NM_001198536.2:c.889C>T | NP_001185465.2:p.Leu297= |