Linked Data
ClinVar Variation Id:
446202
dbSNP Id:
rs537467155
ExAC:
9:133569267 G / T
gnomAD v2:
9-133569267-G-T
gnomAD v3:
9-130693880-G-T
gnomAD v4:
9-130693880-G-T
PubMed:
PMID:26843489
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130693880G>T , CM000671.2:g.130693880G>T | GRCh38 |
| NC_000009.11:g.133569267G>T , CM000671.1:g.133569267G>T | GRCh37 |
| NC_000009.10:g.132559088G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000491115.7:c.89G>T | ENSP00000509903.1:p.Gly30Val | |
| ENST00000495699.3:c.89G>T | ENSP00000418463.3:p.Gly30Val | |
| ENST00000546165.6:c.89G>T | ENSP00000444917.1:p.Gly30Val | |
| ENST00000685137.1:c.89G>T | ENSP00000510555.1:p.Gly30Val | |
| ENST00000685277.1:c.89G>T | ENSP00000508897.1:p.Gly30Val | |
| ENST00000686102.1:n.125G>T | ||
| ENST00000686106.1:n.100G>T | ||
| ENST00000687051.1:c.89G>T | ENSP00000509862.1:p.Gly30Val | |
| ENST00000687420.1:c.89G>T | ENSP00000510661.1:p.Gly30Val | |
| ENST00000688258.1:c.89G>T | ENSP00000509176.1:p.Gly30Val | |
| ENST00000688350.1:n.100G>T | ||
| ENST00000688967.1:c.89G>T | ENSP00000509217.1:p.Gly30Val | |
| ENST00000689890.1:c.89G>T | ENSP00000508702.1:p.Gly30Val | |
| ENST00000691104.1:n.110G>T | ||
| ENST00000691162.1:n.101G>T | ||
| ENST00000691284.1:c.89G>T | ENSP00000508620.1:p.Gly30Val | |
| ENST00000691425.1:n.101G>T | ||
| ENST00000691926.1:c.89G>T | ENSP00000510677.1:p.Gly30Val | |
| ENST00000692554.1:n.101G>T | ||
| ENST00000692794.1:c.89G>T | ENSP00000510147.1:p.Gly30Val | |
| ENST00000693011.1:c.89G>T | ENSP00000508836.1:p.Gly30Val | |
| ENST00000693435.1:c.89G>T | ENSP00000509661.1:p.Gly30Val | |
| ENST00000693610.1:c.89G>T | ENSP00000509388.1:p.Gly30Val | |
| ENST00000372358.10:c.89G>T MANE Select | ENSP00000361433.5:p.Gly30Val | |
| ENST00000372350.7:c.89G>T | ENSP00000361425.2:p.Gly30Val | |
| ENST00000372351.7:c.89G>T | ENSP00000361426.3:p.Gly30Val | |
| ENST00000372352.7:c.89G>T | ENSP00000361427.3:p.Gly30Val | |
| ENST00000372358.9:c.89G>T | ENSP00000361433.5:p.Gly30Val | |
| ENST00000430138.6:n.106G>T | ||
| ENST00000463488.1:n.75G>T | ||
| ENST00000490641.5:n.101G>T | ||
| ENST00000491115.6:n.160G>T | ||
| ENST00000495699.2:c.75G>T | ||
| ENST00000546165.5:c.89G>T | ENSP00000444917.1:p.Gly30Val | |
| NM_001282708.1:c.89G>T | NP_001269637.1:p.Gly30Val | |
| NM_001282709.1:c.89G>T | NP_001269638.1:p.Gly30Val | |
| NM_014285.6:c.89G>T | NP_055100.2:p.Gly30Val | |
| NR_104230.1:n.121G>T | ||
| XM_005272176.2:c.-261G>T | XP_005272233.1:n.-261G>T | |
| XM_006717022.1:c.89G>T | XP_006717085.1:p.Gly30Val | |
| XM_006717023.2:c.-225G>T | XP_006717086.1:n.-225G>T | |
| XM_006717024.2:c.89G>T | XP_006717087.1:p.Gly30Val | |
| XM_017014558.1:c.-795G>T | XP_016870047.1:n.-795G>T | |
| XR_001746262.1:n.101G>T | ||
| NM_014285.7:c.89G>T MANE Select | NP_055100.2:p.Gly30Val |