Linked Data
ClinVar Variation Id:
470051
dbSNP Id:
rs748745776
ExAC:
5:112177803 G / A
gnomAD v2:
5-112177803-G-A
gnomAD v3:
5-112842106-G-A
gnomAD v4:
5-112842106-G-A
PubMed:
PMID:25980754
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842106G>A , CM000667.2:g.112842106G>A | GRCh38 |
| NC_000005.9:g.112177803G>A , CM000667.1:g.112177803G>A | GRCh37 |
| NC_000005.8:g.112205702G>A | NCBI36 |
| NG_008481.4:g.154586G>A , LRG_130:g.154586G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.6566G>A | ENSP00000473355.2:p.Gly2189Glu | |
| ENST00000505350.2:c.*6518G>A | ENSP00000481752.1:n.*6518G>A | |
| ENST00000507379.6:c.6458G>A | ENSP00000423224.2:p.Gly2153Glu | |
| ENST00000509732.6:c.6512G>A | ENSP00000426541.2:p.Gly2171Glu | |
| ENST00000512211.7:c.6512G>A | ENSP00000423828.3:p.Gly2171Glu | |
| ENST00000257430.9:c.6512G>A MANE Select | ENSP00000257430.4:p.Gly2171Glu | |
| ENST00000257430.8:c.6512G>A | ENSP00000257430.4:p.Gly2171Glu | |
| ENST00000508376.6:c.6512G>A | ENSP00000427089.2:p.Gly2171Glu | |
| ENST00000508624.5:c.*5834G>A | ENSP00000424265.1:n.*5834G>A | |
| ENST00000520401.1:c.230+13134G>A | ||
| NM_000038.5:c.6512G>A | NP_000029.2:p.Gly2171Glu | |
| NM_001127510.2:c.6512G>A | NP_001120982.1:p.Gly2171Glu | |
| NM_001127511.2:c.6458G>A | NP_001120983.2:p.Gly2153Glu | |
| NM_001354895.1:c.6512G>A | NP_001341824.1:p.Gly2171Glu | |
| NM_001354896.1:c.6566G>A | NP_001341825.1:p.Gly2189Glu | |
| NM_001354897.1:c.6542G>A | NP_001341826.1:p.Gly2181Glu | |
| NM_001354898.1:c.6437G>A | NP_001341827.1:p.Gly2146Glu | |
| NM_001354899.1:c.6428G>A | NP_001341828.1:p.Gly2143Glu | |
| NM_001354900.1:c.6389G>A | NP_001341829.1:p.Gly2130Glu | |
| NM_001354901.1:c.6335G>A | NP_001341830.1:p.Gly2112Glu | |
| NM_001354902.1:c.6239G>A | NP_001341831.1:p.Gly2080Glu | |
| NM_001354903.1:c.6209G>A | NP_001341832.1:p.Gly2070Glu | |
| NM_001354904.1:c.6134G>A | NP_001341833.1:p.Gly2045Glu | |
| NM_001354905.1:c.6032G>A | NP_001341834.1:p.Gly2011Glu | |
| NM_001354906.1:c.5663G>A | NP_001341835.1:p.Gly1888Glu | |
| NM_000038.6:c.6512G>A MANE Select | NP_000029.2:p.Gly2171Glu | |
| NM_001127510.3:c.6512G>A | NP_001120982.1:p.Gly2171Glu | |
| NM_001127511.3:c.6458G>A | NP_001120983.2:p.Gly2153Glu | |
| NM_001354895.2:c.6512G>A | NP_001341824.1:p.Gly2171Glu | |
| NM_001354896.2:c.6566G>A | NP_001341825.1:p.Gly2189Glu | |
| NM_001354897.2:c.6542G>A | NP_001341826.1:p.Gly2181Glu | |
| NM_001354898.2:c.6437G>A | NP_001341827.1:p.Gly2146Glu | |
| NM_001354899.2:c.6428G>A | NP_001341828.1:p.Gly2143Glu | |
| NM_001354900.2:c.6389G>A | NP_001341829.1:p.Gly2130Glu | |
| NM_001354901.2:c.6335G>A | NP_001341830.1:p.Gly2112Glu | |
| NM_001354902.2:c.6239G>A | NP_001341831.1:p.Gly2080Glu | |
| NM_001354903.2:c.6209G>A | NP_001341832.1:p.Gly2070Glu | |
| NM_001354904.2:c.6134G>A | NP_001341833.1:p.Gly2045Glu | |
| NM_001354905.2:c.6032G>A | NP_001341834.1:p.Gly2011Glu | |
| NM_001354906.2:c.5663G>A | NP_001341835.1:p.Gly1888Glu |