Linked Data
ClinVar Variation Id:
208644
dbSNP Id:
rs797044850
PubMed:
PMID:10610178
PMID:10699187
PMID:11309678
PMID:14681884
PMID:14732620
PMID:15326248
PMID:17100993
PMID:17101632
PMID:18190593
PMID:19453301
PMID:20562464
PMID:20932283
PMID:22554690
PMID:23122959
PMID:23438842
PMID:24267886
PMID:25065914
PMID:25315759
PMID:26094131
PMID:26208798
PMID:26374131
PMID:26671083
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32127017A>G , CM000664.2:g.32127017A>G | GRCh38 |
| NC_000002.11:g.32352086A>G , CM000664.1:g.32352086A>G | GRCh37 |
| NC_000002.10:g.32205590A>G | NCBI36 |
| NG_008730.1:g.68407A>G , LRG_714:g.68407A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000704289.1:c.*828A>G | ENSP00000515816.1:n.*828A>G | |
| ENST00000315285.9:c.1168A>G MANE Select | ENSP00000320885.3:p.Met390Val | |
| ENST00000621856.2:c.1165A>G | ENSP00000482496.2:p.Met389Val | |
| ENST00000642281.1:c.983-9546A>G | ||
| ENST00000642455.1:c.1069A>G | ENSP00000493827.1:p.Met357Val | |
| ENST00000642751.1:c.942A>G | ||
| ENST00000642999.1:c.910A>G | ENSP00000496589.1:p.Met304Val | |
| ENST00000643327.1:c.327A>G | ||
| ENST00000643334.1:c.748A>G | ||
| ENST00000644408.1:c.1044A>G | ||
| ENST00000644954.1:c.814A>G | ENSP00000494312.1:p.Met272Val | |
| ENST00000645159.1:n.520A>G | ||
| ENST00000645550.1:n.381A>G | ||
| ENST00000645671.1:c.618A>G | ||
| ENST00000645730.1:c.515A>G | ||
| ENST00000646082.1:c.814A>G | ||
| ENST00000646571.1:c.1072A>G | ENSP00000495015.1:p.Met358Val | |
| ENST00000647007.1:n.860A>G | ||
| ENST00000647133.1:c.674-1391A>G | ||
| ENST00000315285.7:c.1168A>G | ENSP00000320885.3:p.Met390Val | |
| ENST00000345662.5:c.1072A>G | ENSP00000340817.1:p.Met358Val | |
| ENST00000615843.4:c.1168A>G | ENSP00000480893.1:p.Met390Val | |
| ENST00000621856.1:c.910A>G | ENSP00000482496.1:p.Met304Val | |
| NM_014946.3:c.1168A>G , LRG_714t1:c.1168A>G | NP_055761.2:p.Met390Val | |
| NM_199436.1:c.1072A>G | NP_955468.1:p.Met358Val | |
| XM_005264516.3:c.1165A>G | XP_005264573.1:p.Met389Val | |
| XM_011533067.1:c.1168A>G | XP_011531369.1:p.Met390Val | |
| NM_001363823.1:c.1165A>G | NP_001350752.1:p.Met389Val | |
| NM_001363875.1:c.1069A>G | NP_001350804.1:p.Met357Val | |
| XM_005264516.5:c.1165A>G | XP_005264573.1:p.Met389Val | |
| XM_011533067.2:c.1168A>G | XP_011531369.1:p.Met390Val | |
| XM_017004778.2:c.1072A>G | XP_016860267.1:p.Met358Val | |
| NM_001363823.2:c.1165A>G | NP_001350752.1:p.Met389Val | |
| NM_001363875.2:c.1069A>G | NP_001350804.1:p.Met357Val | |
| NM_001377959.1:c.1072A>G | NP_001364888.1:p.Met358Val | |
| NM_014946.4:c.1168A>G MANE Select | NP_055761.2:p.Met390Val | |
| NM_199436.2:c.1072A>G | NP_955468.1:p.Met358Val |