Linked Data
ClinVar Variation Id:
2896181
ClinVar RCV Id:
RCV003606777
dbSNP Id:
rs1402790605
gnomAD v3:
16-3243237-C-T
gnomAD v4:
16-3243237-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243237C>T , CM000678.2:g.3243237C>T | GRCh38 |
| NC_000016.9:g.3293237C>T , CM000678.1:g.3293237C>T | GRCh37 |
| NC_000016.8:g.3233238C>T | NCBI36 |
| NG_007871.1:g.18391G>A , LRG_190:g.18391G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.1371G>A | ||
| ENST00000219596.6:c.2250G>A MANE Select | ENSP00000219596.1:p.Gly750= | |
| ENST00000219596.5:c.2250G>A | ENSP00000219596.1:p.Gly750= | |
| ENST00000339854.8:c.1710G>A | ENSP00000339639.4:p.Gly570= | |
| ENST00000536379.5:c.1617G>A | ENSP00000445079.1:p.Gly539= | |
| ENST00000536980.5:c.*526G>A | ENSP00000444178.1:n.*526G>A | |
| ENST00000537682.5:c.*526G>A | ENSP00000438611.1:n.*526G>A | |
| ENST00000538326.5:c.*875G>A | ENSP00000437486.1:n.*875G>A | |
| ENST00000539145.5:c.1171G>A | ENSP00000444471.1:n.1171G>A | |
| ENST00000541159.5:c.1792G>A | ENSP00000438711.1:n.1792G>A | |
| ENST00000542898.5:c.*526G>A | ENSP00000444615.1:n.*526G>A | |
| ENST00000570511.5:c.1655G>A | ENSP00000458312.1:n.1655G>A | |
| ENST00000572244.5:c.940G>A | ENSP00000461186.1:n.940G>A | |
| ENST00000574583.5:c.1022G>A | ENSP00000460269.1:n.1022G>A | |
| ENST00000576315.5:c.1055G>A | ENSP00000460551.1:n.1055G>A | |
| ENST00000621655.1:c.1787G>A | ENSP00000481436.1:n.1787G>A | |
| NM_000243.2:c.2250G>A , LRG_190t1:c.2250G>A | NP_000234.1:p.Gly750= | |
| NM_001198536.1:c.*454G>A | NP_001185465.1:n.*454G>A | |
| XM_017023236.2:c.2247G>A | XP_016878725.1:p.Gly749= | |
| NM_000243.3:c.2250G>A MANE Select | NP_000234.1:p.Gly750= | |
| NM_001198536.2:c.*454G>A | NP_001185465.2:n.*454G>A |