Linked Data
ClinVar Variation Id:
652169
dbSNP Id:
rs1032686725
gnomAD v2:
9-111641820-C-T
gnomAD v3:
9-108879540-C-T
gnomAD v4:
9-108879540-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.108879540C>T , CM000671.2:g.108879540C>T | GRCh38 |
| NC_000009.11:g.111641820C>T , CM000671.1:g.111641820C>T | GRCh37 |
| NC_000009.10:g.110681641C>T | NCBI36 |
| NG_008788.1:g.59789G>A , LRG_251:g.59789G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374647.10:c.3478G>A MANE Select | ENSP00000363779.5:p.Gly1160Arg | |
| ENST00000495759.6:c.*2088G>A | ENSP00000433514.2:n.*2088G>A | |
| ENST00000674535.1:c.3478G>A | ENSP00000502142.1:p.Gly1160Arg | |
| ENST00000674704.1:n.6563G>A | ||
| ENST00000674740.1:n.361G>A | ||
| ENST00000674836.1:n.4091G>A | ||
| ENST00000674890.1:c.*713G>A | ENSP00000501870.1:n.*713G>A | |
| ENST00000674938.1:c.3136G>A | ENSP00000502427.1:p.Gly1046Arg | |
| ENST00000674948.1:c.3136G>A | ENSP00000501602.1:p.Gly1046Arg | |
| ENST00000675052.1:c.3478G>A | ENSP00000502664.1:p.Gly1160Arg | |
| ENST00000675062.1:n.524G>A | ||
| ENST00000675078.1:c.3478G>A | ENSP00000501549.1:p.Gly1160Arg | |
| ENST00000675215.1:c.*2702G>A | ENSP00000502558.1:n.*2702G>A | |
| ENST00000675233.1:n.5305G>A | ||
| ENST00000675321.1:c.3460+512G>A | ENSP00000502751.1:n.3460+512G>A | |
| ENST00000675325.1:n.5435G>A | ||
| ENST00000675335.1:c.3509G>A | ENSP00000502182.1:n.3509G>A | |
| ENST00000675400.1:n.5330G>A | ||
| ENST00000675406.1:c.3478G>A | ENSP00000501893.1:p.Gly1160Arg | |
| ENST00000675458.1:c.3571G>A | ENSP00000501754.1:n.3571G>A | |
| ENST00000675507.1:n.5274G>A | ||
| ENST00000675535.1:c.*1105G>A | ENSP00000501667.1:n.*1105G>A | |
| ENST00000675566.1:n.5336G>A | ||
| ENST00000675580.1:n.631G>A | ||
| ENST00000675602.1:n.6526G>A | ||
| ENST00000675647.1:n.4642G>A | ||
| ENST00000675711.1:c.3595G>A | ENSP00000502485.1:n.3595G>A | |
| ENST00000675727.1:c.3478G>A | ENSP00000501722.1:p.Gly1160Arg | |
| ENST00000675748.1:n.5112G>A | ||
| ENST00000675765.1:c.*861G>A | ENSP00000502640.1:n.*861G>A | |
| ENST00000675825.1:c.3520G>A | ENSP00000502632.1:p.Gly1174Arg | |
| ENST00000675877.1:n.5322G>A | ||
| ENST00000675893.1:c.*4547G>A | ENSP00000502001.1:n.*4547G>A | |
| ENST00000675943.1:n.7093G>A | ||
| ENST00000675979.1:c.*2721G>A | ENSP00000502208.1:n.*2721G>A | |
| ENST00000676044.1:c.*1138G>A | ENSP00000502378.1:n.*1138G>A | |
| ENST00000676086.1:n.5263G>A | ||
| ENST00000676121.1:n.5306G>A | ||
| ENST00000676162.1:n.207G>A | ||
| ENST00000676237.1:c.3421G>A | ENSP00000501828.1:p.Gly1141Arg | |
| ENST00000676416.1:c.3178G>A | ENSP00000501660.1:p.Gly1060Arg | |
| ENST00000676424.1:n.5316G>A | ||
| ENST00000676429.1:n.7947G>A | ||
| ENST00000374647.9:c.3478G>A | ENSP00000363779.5:p.Gly1160Arg | |
| ENST00000467959.1:n.358G>A | ||
| ENST00000495759.5:c.618G>A | ||
| ENST00000537196.1:c.2431G>A | ENSP00000439367.1:p.Gly811Arg | |
| NM_003640.3:c.3478G>A , LRG_251t1:c.3478G>A | NP_003631.2:p.Gly1160Arg | |
| XM_005252285.2:c.3136G>A | XP_005252342.1:p.Gly1046Arg | |
| XM_011519136.1:c.3520G>A | XP_011517438.1:p.Gly1174Arg | |
| XM_011519137.1:c.3178G>A | XP_011517439.1:p.Gly1060Arg | |
| NM_001318360.1:c.3136G>A | NP_001305289.1:p.Gly1046Arg | |
| NM_001330749.1:c.2431G>A | NP_001317678.1:p.Gly811Arg | |
| NM_003640.4:c.3478G>A | NP_003631.2:p.Gly1160Arg | |
| XM_011519136.2:c.3520G>A | XP_011517438.1:p.Gly1174Arg | |
| XR_929859.3:n.3867G>A | ||
| NM_003640.5:c.3478G>A MANE Select | NP_003631.2:p.Gly1160Arg | |
| NM_001318360.2:c.3136G>A | NP_001305289.1:p.Gly1046Arg | |
| NM_001330749.2:c.2431G>A | NP_001317678.1:p.Gly811Arg |