Linked Data
ClinVar Variation Id:
355559
dbSNP Id:
rs557217199
ExAC:
6:137525493 C / T
gnomAD v2:
6-137525493-C-T
gnomAD v3:
6-137204356-C-T
gnomAD v4:
6-137204356-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.137204356C>T , CM000668.2:g.137204356C>T | GRCh38 |
| NC_000006.11:g.137525493C>T , CM000668.1:g.137525493C>T | GRCh37 |
| NC_000006.10:g.137567186C>T | NCBI36 |
| NG_007394.1:g.20075G>A , LRG_66:g.20075G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000414770.6:c.492G>A | ENSP00000394230.2:p.Val164= | |
| ENST00000458076.6:c.420G>A | ENSP00000389249.2:p.Val140= | |
| ENST00000696693.1:c.399G>A | ENSP00000512814.1:p.Val133= | |
| ENST00000696694.1:c.522G>A | ENSP00000512815.1:p.Val174= | |
| ENST00000696695.1:c.522G>A | ENSP00000512816.1:p.Val174= | |
| ENST00000696696.1:c.*421G>A | ENSP00000512817.1:n.*421G>A | |
| ENST00000696697.1:c.468G>A | ENSP00000512818.1:p.Val156= | |
| ENST00000696698.1:c.522G>A | ENSP00000512819.1:p.Val174= | |
| ENST00000696699.1:c.438G>A | ENSP00000512820.1:p.Val146= | |
| ENST00000367739.9:c.522G>A MANE Select | ENSP00000356713.5:p.Val174= | |
| ENST00000642390.1:c.465G>A | ENSP00000496468.1:p.Val155= | |
| ENST00000643119.1:c.642G>A | ENSP00000495934.1:n.642G>A | |
| ENST00000644894.1:c.399G>A | ENSP00000495272.1:p.Val133= | |
| ENST00000645045.1:c.631G>A | ||
| ENST00000645753.1:c.399G>A | ENSP00000495103.1:p.Val133= | |
| ENST00000646036.1:c.492G>A | ENSP00000496387.1:p.Val164= | |
| ENST00000646898.1:c.492G>A | ENSP00000494069.1:p.Val164= | |
| ENST00000647124.1:c.399G>A | ENSP00000496549.1:p.Val133= | |
| ENST00000367739.8:c.522G>A | ENSP00000356713.4:p.Val174= | |
| ENST00000458076.5:c.420G>A | ENSP00000389249.1:p.Val140= | |
| ENST00000543628.5:c.522G>A | ENSP00000443282.2:p.Val174= | |
| NM_000416.2:c.522G>A , LRG_66t1:c.522G>A | NP_000407.1:p.Val174= | |
| XM_006715470.2:c.492G>A | XP_006715533.1:p.Val164= | |
| XM_006715471.2:c.399G>A | XP_006715534.1:p.Val133= | |
| XM_011535793.1:c.492G>A | XP_011534095.1:p.Val164= | |
| XM_011535794.1:c.492G>A | XP_011534096.1:p.Val164= | |
| NM_001363526.1:c.492G>A | NP_001350455.1:p.Val164= | |
| NM_001363527.1:c.399G>A | NP_001350456.1:p.Val133= | |
| XM_006715470.3:c.492G>A | XP_006715533.1:p.Val164= | |
| XM_011535793.2:c.492G>A | XP_011534095.1:p.Val164= | |
| NM_000416.3:c.522G>A MANE Select | NP_000407.1:p.Val174= |