Linked Data
ClinVar Variation Id:
753928
ClinVar RCV Id:
RCV003497908
dbSNP Id:
rs1488237213
gnomAD v2:
16-3293177-C-T
gnomAD v3:
16-3243177-C-T
gnomAD v4:
16-3243177-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243177C>T , CM000678.2:g.3243177C>T | GRCh38 |
| NC_000016.9:g.3293177C>T , CM000678.1:g.3293177C>T | GRCh37 |
| NC_000016.8:g.3233178C>T | NCBI36 |
| NG_007871.1:g.18451G>A , LRG_190:g.18451G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.1431G>A | ||
| ENST00000219596.6:c.2310G>A MANE Select | ENSP00000219596.1:p.Leu770= | |
| ENST00000219596.5:c.2310G>A | ENSP00000219596.1:p.Leu770= | |
| ENST00000339854.8:c.1770G>A | ENSP00000339639.4:p.Leu590= | |
| ENST00000536379.5:c.1677G>A | ENSP00000445079.1:p.Leu559= | |
| ENST00000536980.5:c.*586G>A | ENSP00000444178.1:n.*586G>A | |
| ENST00000537682.5:c.*586G>A | ENSP00000438611.1:n.*586G>A | |
| ENST00000538326.5:c.*935G>A | ENSP00000437486.1:n.*935G>A | |
| ENST00000539145.5:c.1231G>A | ENSP00000444471.1:n.1231G>A | |
| ENST00000541159.5:c.1852G>A | ENSP00000438711.1:n.1852G>A | |
| ENST00000542898.5:c.*586G>A | ENSP00000444615.1:n.*586G>A | |
| ENST00000570511.5:c.1715G>A | ENSP00000458312.1:n.1715G>A | |
| ENST00000572244.5:c.1000G>A | ENSP00000461186.1:n.1000G>A | |
| ENST00000574583.5:c.1082G>A | ENSP00000460269.1:n.1082G>A | |
| ENST00000576315.5:c.1115G>A | ENSP00000460551.1:n.1115G>A | |
| ENST00000621655.1:c.1847G>A | ENSP00000481436.1:n.1847G>A | |
| NM_000243.2:c.2310G>A , LRG_190t1:c.2310G>A | NP_000234.1:p.Leu770= | |
| NM_001198536.1:c.*514G>A | NP_001185465.1:n.*514G>A | |
| XM_017023236.2:c.2307G>A | XP_016878725.1:p.Leu769= | |
| NM_000243.3:c.2310G>A MANE Select | NP_000234.1:p.Leu770= | |
| NM_001198536.2:c.*514G>A | NP_001185465.2:n.*514G>A |