Linked Data
ClinVar Variation Id:
48071
ClinVar RCV Id:
RCV000041356
RCV000057430
RCV000226227
RCV000253205
RCV000285363
RCV000291863
RCV000311894
RCV000346784
RCV000344918
RCV000371234
RCV000379768
RCV000403709
RCV000390872
RCV000768713
RCV001093797
RCV001096564
RCV001173422
RCV003996464
dbSNP Id:
rs12117552
ExAC:
1:156104292 G / A
gnomAD v2:
1-156104292-G-A
gnomAD v3:
1-156134501-G-A
gnomAD v4:
1-156134501-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156134501G>A , CM000663.2:g.156134501G>A | GRCh38 |
| NC_000001.10:g.156104292G>A , CM000663.1:g.156104292G>A | GRCh37 |
| NC_000001.9:g.154370916G>A | NCBI36 |
| NG_008692.2:g.56929G>A , LRG_254:g.56929G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.54G>A | ENSP00000426535.3:p.Leu18= | |
| ENST00000682650.1:c.612G>A | ENSP00000506904.1:p.Leu204= | |
| ENST00000683032.1:c.612G>A | ENSP00000506771.1:p.Leu204= | |
| ENST00000684195.1:c.612G>A | ENSP00000508220.1:p.Leu204= | |
| ENST00000361308.9:c.612G>A | ENSP00000355292.6:p.Leu204= | |
| ENST00000368300.9:c.612G>A MANE Select | ENSP00000357283.4:p.Leu204= | |
| ENST00000496738.6:n.987G>A | ||
| ENST00000504687.6:c.-53G>A | ENSP00000426535.2:n.-53G>A | |
| ENST00000674518.1:c.612G>A | ENSP00000502261.1:p.Leu204= | |
| ENST00000674600.1:c.*411G>A | ENSP00000501666.1:n.*411G>A | |
| ENST00000674720.1:c.612G>A | ENSP00000502798.1:p.Leu204= | |
| ENST00000675431.1:n.305G>A | ||
| ENST00000675455.1:c.*412G>A | ENSP00000501795.1:n.*412G>A | |
| ENST00000675667.1:c.612G>A | ENSP00000501803.1:p.Leu204= | |
| ENST00000675874.1:c.*83G>A | ENSP00000501851.1:n.*83G>A | |
| ENST00000675881.1:c.612G>A | ENSP00000501670.1:p.Leu204= | |
| ENST00000675939.1:c.612G>A | ENSP00000502256.1:p.Leu204= | |
| ENST00000675989.1:n.987G>A | ||
| ENST00000676208.1:c.612G>A | ENSP00000502468.1:p.Leu204= | |
| ENST00000676283.1:n.987G>A | ||
| ENST00000676385.2:c.612G>A | ENSP00000502091.1:p.Leu204= | |
| ENST00000676434.1:c.612G>A | ENSP00000501648.1:p.Leu204= | |
| ENST00000677389.1:c.612G>A MANE Plus Clinical | ENSP00000503633.1:p.Leu204= | |
| ENST00000347559.6:c.612G>A | ENSP00000292304.3:p.Leu204= | |
| ENST00000361308.8:c.612G>A | ENSP00000355292.5:p.Leu204= | |
| ENST00000368297.5:c.369G>A | ENSP00000357280.1:p.Leu123= | |
| ENST00000368299.7:c.612G>A | ENSP00000357282.3:p.Leu204= | |
| ENST00000368300.8:c.612G>A | ENSP00000357283.4:p.Leu204= | |
| ENST00000368301.6:c.612G>A | ENSP00000357284.2:p.Leu204= | |
| ENST00000448611.6:c.276G>A | ENSP00000395597.2:p.Leu92= | |
| ENST00000473598.6:c.315G>A | ENSP00000421821.1:p.Leu105= | |
| ENST00000502357.5:n.510G>A | ||
| ENST00000504687.5:c.363G>A | ENSP00000426535.1:p.Leu121= | |
| ENST00000515459.5:c.*286G>A | ENSP00000424518.1:n.*286G>A | |
| NM_001257374.2:c.276G>A | NP_001244303.1:p.Leu92= | |
| NM_001282624.1:c.369G>A | NP_001269553.1:p.Leu123= | |
| NM_001282625.1:c.612G>A | NP_001269554.1:p.Leu204= | |
| NM_001282626.1:c.612G>A | NP_001269555.1:p.Leu204= | |
| NM_005572.3:c.612G>A , LRG_254t1:c.612G>A | NP_005563.1:p.Leu204= | |
| NM_170707.3:c.612G>A | NP_733821.1:p.Leu204= | |
| NM_170708.3:c.612G>A | NP_733822.1:p.Leu204= | |
| XM_011509533.1:c.276G>A | XP_011507835.1:p.Leu92= | |
| XM_011509534.1:c.-53G>A | XP_011507836.1:n.-53G>A | |
| XR_921781.1:n.861G>A | ||
| XM_011509534.2:c.-53G>A | XP_011507836.1:n.-53G>A | |
| XR_921781.2:n.859G>A | ||
| NM_170707.4:c.612G>A MANE Select | NP_733821.1:p.Leu204= | |
| NM_001257374.3:c.276G>A | NP_001244303.1:p.Leu92= | |
| NM_001282626.2:c.612G>A | NP_001269555.1:p.Leu204= | |
| NM_001282624.2:c.369G>A | NP_001269553.1:p.Leu123= | |
| NM_001282625.2:c.612G>A | NP_001269554.1:p.Leu204= | |
| NM_005572.4:c.612G>A MANE Plus Clinical | NP_005563.1:p.Leu204= | |
| NM_170708.4:c.612G>A | NP_733822.1:p.Leu204= |