Linked Data
dbSNP Id:
rs1347862457
gnomAD v2:
5-94852397-C-T
gnomAD v3:
5-95516693-C-T
gnomAD v4:
5-95516693-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.95516693C>T , CM000667.2:g.95516693C>T | GRCh38 |
| NC_000005.9:g.94852397C>T , CM000667.1:g.94852397C>T | GRCh37 |
| NC_000005.8:g.94878153C>T | NCBI36 |
| NG_023414.1:g.43313G>A , LRG_173:g.43313G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506007.2:n.2949G>A | ||
| ENST00000513232.2:c.*1374G>A | ENSP00000422749.2:n.*1374G>A | |
| ENST00000698450.1:n.1878G>A | ||
| ENST00000698451.1:n.2079G>A | ||
| ENST00000698452.1:n.3150G>A | ||
| ENST00000698453.1:c.2442-107G>A | ENSP00000513735.1:n.2442-107G>A | |
| ENST00000698454.1:c.2485G>A | ENSP00000513736.1:p.Gly829Ser | |
| ENST00000698455.1:c.*2635G>A | ENSP00000513737.1:n.*2635G>A | |
| ENST00000698456.1:c.*1352G>A | ENSP00000513738.1:n.*1352G>A | |
| ENST00000698457.1:c.2284G>A | ENSP00000513739.1:p.Gly762Ser | |
| ENST00000698458.1:c.2478-107G>A | ENSP00000513740.1:n.2478-107G>A | |
| ENST00000698459.1:c.2494G>A | ENSP00000513741.1:p.Gly832Ser | |
| ENST00000698460.1:c.*279-107G>A | ENSP00000513742.1:n.*279-107G>A | |
| ENST00000698461.1:n.2949G>A | ||
| ENST00000698462.1:n.2869G>A | ||
| ENST00000698468.1:n.3150G>A | ||
| ENST00000698469.1:c.*2006G>A | ENSP00000513743.1:n.*2006G>A | |
| ENST00000698470.1:c.*501G>A | ENSP00000513744.1:n.*501G>A | |
| ENST00000698471.1:n.2949G>A | ||
| ENST00000698472.1:c.*1374G>A | ENSP00000513745.1:n.*1374G>A | |
| ENST00000698473.1:n.2949G>A | ||
| ENST00000698474.1:n.2949G>A | ||
| ENST00000698475.1:n.3034G>A | ||
| ENST00000698476.1:c.2494G>A | ENSP00000513746.1:p.Gly832Ser | |
| ENST00000698477.1:c.2442-107G>A | ENSP00000513747.1:n.2442-107G>A | |
| ENST00000698478.1:n.2949G>A | ||
| ENST00000698479.1:c.2494G>A | ENSP00000513748.1:p.Gly832Ser | |
| ENST00000698480.1:c.2437-107G>A | ENSP00000513749.1:n.2437-107G>A | |
| ENST00000698481.1:c.2437-107G>A | ENSP00000513750.1:n.2437-107G>A | |
| ENST00000698482.1:n.2784G>A | ||
| ENST00000698483.1:n.2949G>A | ||
| ENST00000698484.1:c.2494G>A | ENSP00000513751.1:p.Gly832Ser | |
| ENST00000698485.1:c.2437-107G>A | ENSP00000513752.1:n.2437-107G>A | |
| ENST00000698486.1:n.2949G>A | ||
| ENST00000698487.1:c.2494G>A | ENSP00000513753.1:p.Gly832Ser | |
| ENST00000698488.1:c.2260-107G>A | ENSP00000513754.1:n.2260-107G>A | |
| ENST00000698489.1:n.6734G>A | ||
| ENST00000698490.1:c.2494G>A | ENSP00000513755.1:p.Gly832Ser | |
| ENST00000698492.1:c.*1209G>A | ENSP00000513756.1:n.*1209G>A | |
| ENST00000698493.1:n.2784G>A | ||
| ENST00000698494.1:c.*389G>A | ENSP00000513757.1:n.*389G>A | |
| ENST00000358746.7:c.2494G>A MANE Select | ENSP00000351596.3:p.Gly832Ser | |
| ENST00000649566.1:c.2494G>A | ENSP00000497948.1:p.Gly832Ser | |
| ENST00000358746.6:c.2494G>A | ENSP00000351596.2:p.Gly832Ser | |
| ENST00000506007.1:n.76G>A | ||
| ENST00000507805.5:n.681G>A | ||
| NM_014639.3:c.2494G>A , LRG_173t1:c.2494G>A | NP_055454.1:p.Gly832Ser | |
| XR_948312.1:n.2763G>A | ||
| XR_001742370.2:n.2766G>A | ||
| NM_014639.4:c.2494G>A MANE Select | NP_055454.1:p.Gly832Ser |