Linked Data
ClinVar Variation Id:
48056
dbSNP Id:
rs144851946
ExAC:
1:156108492 G / A
gnomAD v2:
1-156108492-G-A
gnomAD v3:
1-156138701-G-A
gnomAD v4:
1-156138701-G-A
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156138701G>A , CM000663.2:g.156138701G>A | GRCh38 |
| NC_000001.10:g.156108492G>A , CM000663.1:g.156108492G>A | GRCh37 |
| NC_000001.9:g.154375116G>A | NCBI36 |
| NG_008692.2:g.61129G>A , LRG_254:g.61129G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.1354G>A | ENSP00000426535.3:p.Gly452Arg | |
| ENST00000682650.1:c.1822G>A | ENSP00000506904.1:p.Gly608Arg | |
| ENST00000683032.1:c.1912G>A | ENSP00000506771.1:p.Gly638Arg | |
| ENST00000683773.1:n.163+94G>A | ||
| ENST00000684195.1:c.*1004G>A | ENSP00000508220.1:n.*1004G>A | |
| ENST00000361308.9:c.1912G>A | ENSP00000355292.6:p.Gly638Arg | |
| ENST00000368300.9:c.1912G>A MANE Select | ENSP00000357283.4:p.Gly638Arg | |
| ENST00000674518.1:c.*1262G>A | ENSP00000502261.1:n.*1262G>A | |
| ENST00000674600.1:c.*1711G>A | ENSP00000501666.1:n.*1711G>A | |
| ENST00000675455.1:c.*1712G>A | ENSP00000501795.1:n.*1712G>A | |
| ENST00000675667.1:c.1912G>A | ENSP00000501803.1:p.Gly638Arg | |
| ENST00000675874.1:c.*1383G>A | ENSP00000501851.1:n.*1383G>A | |
| ENST00000675881.1:c.*923G>A | ENSP00000501670.1:n.*923G>A | |
| ENST00000675939.1:c.1912G>A | ENSP00000502256.1:p.Gly638Arg | |
| ENST00000675989.1:n.3515G>A | ||
| ENST00000676208.1:c.*1015G>A | ENSP00000502468.1:n.*1015G>A | |
| ENST00000676385.2:c.1822G>A | ENSP00000502091.1:p.Gly608Arg | |
| ENST00000676434.1:c.*1667G>A | ENSP00000501648.1:n.*1667G>A | |
| ENST00000347559.6:c.1822G>A | ENSP00000292304.3:p.Gly608Arg | |
| ENST00000368299.7:c.1818+94G>A | ENSP00000357282.3:n.1818+94G>A | |
| ENST00000368300.8:c.1912G>A | ENSP00000357283.4:p.Gly638Arg | |
| ENST00000448611.6:c.1576G>A | ENSP00000395597.2:p.Gly526Arg | |
| ENST00000473598.6:c.1615G>A | ENSP00000421821.1:p.Gly539Arg | |
| ENST00000496738.5:n.2125G>A | ||
| ENST00000506981.1:n.496G>A | ||
| ENST00000508500.1:c.700G>A | ENSP00000424977.1:p.Gly234Arg | |
| NM_001257374.2:c.1576G>A | NP_001244303.1:p.Gly526Arg | |
| NM_001282626.1:c.1818+94G>A | NP_001269555.1:n.1818+94G>A | |
| NM_170707.3:c.1912G>A | NP_733821.1:p.Gly638Arg | |
| NM_170708.3:c.1822G>A | NP_733822.1:p.Gly608Arg | |
| XM_011509533.1:c.1576G>A | XP_011507835.1:p.Gly526Arg | |
| XM_011509534.1:c.1288G>A | XP_011507836.1:p.Gly430Arg | |
| XR_921781.1:n.2201G>A | ||
| XM_011509534.2:c.1288G>A | XP_011507836.1:p.Gly430Arg | |
| XR_921781.2:n.2199G>A | ||
| NM_170707.4:c.1912G>A MANE Select | NP_733821.1:p.Gly638Arg | |
| NM_001257374.3:c.1576G>A | NP_001244303.1:p.Gly526Arg | |
| NM_001282626.2:c.1818+94G>A | NP_001269555.1:n.1818+94G>A | |
| NM_170708.4:c.1822G>A | NP_733822.1:p.Gly608Arg |