Linked Data
dbSNP Id:
rs368404161
ExAC:
5:94852430 C / T
gnomAD v2:
5-94852430-C-T
gnomAD v3:
5-95516726-C-T
gnomAD v4:
5-95516726-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.95516726C>T , CM000667.2:g.95516726C>T | GRCh38 |
| NC_000005.9:g.94852430C>T , CM000667.1:g.94852430C>T | GRCh37 |
| NC_000005.8:g.94878186C>T | NCBI36 |
| NG_023414.1:g.43280G>A , LRG_173:g.43280G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506007.2:n.2916G>A | ||
| ENST00000513232.2:c.*1341G>A | ENSP00000422749.2:n.*1341G>A | |
| ENST00000698450.1:n.1845G>A | ||
| ENST00000698451.1:n.2046G>A | ||
| ENST00000698452.1:n.3117G>A | ||
| ENST00000698453.1:c.2442-140G>A | ENSP00000513735.1:n.2442-140G>A | |
| ENST00000698454.1:c.2452G>A | ENSP00000513736.1:p.Asp818Asn | |
| ENST00000698455.1:c.*2602G>A | ENSP00000513737.1:n.*2602G>A | |
| ENST00000698456.1:c.*1319G>A | ENSP00000513738.1:n.*1319G>A | |
| ENST00000698457.1:c.2251G>A | ENSP00000513739.1:p.Asp751Asn | |
| ENST00000698458.1:c.2478-140G>A | ENSP00000513740.1:n.2478-140G>A | |
| ENST00000698459.1:c.2461G>A | ENSP00000513741.1:p.Asp821Asn | |
| ENST00000698460.1:c.*279-140G>A | ENSP00000513742.1:n.*279-140G>A | |
| ENST00000698461.1:n.2916G>A | ||
| ENST00000698462.1:n.2836G>A | ||
| ENST00000698468.1:n.3117G>A | ||
| ENST00000698469.1:c.*1973G>A | ENSP00000513743.1:n.*1973G>A | |
| ENST00000698470.1:c.*468G>A | ENSP00000513744.1:n.*468G>A | |
| ENST00000698471.1:n.2916G>A | ||
| ENST00000698472.1:c.*1341G>A | ENSP00000513745.1:n.*1341G>A | |
| ENST00000698473.1:n.2916G>A | ||
| ENST00000698474.1:n.2916G>A | ||
| ENST00000698475.1:n.3001G>A | ||
| ENST00000698476.1:c.2461G>A | ENSP00000513746.1:p.Asp821Asn | |
| ENST00000698477.1:c.2442-140G>A | ENSP00000513747.1:n.2442-140G>A | |
| ENST00000698478.1:n.2916G>A | ||
| ENST00000698479.1:c.2461G>A | ENSP00000513748.1:p.Asp821Asn | |
| ENST00000698480.1:c.2437-140G>A | ENSP00000513749.1:n.2437-140G>A | |
| ENST00000698481.1:c.2437-140G>A | ENSP00000513750.1:n.2437-140G>A | |
| ENST00000698482.1:n.2751G>A | ||
| ENST00000698483.1:n.2916G>A | ||
| ENST00000698484.1:c.2461G>A | ENSP00000513751.1:p.Asp821Asn | |
| ENST00000698485.1:c.2437-140G>A | ENSP00000513752.1:n.2437-140G>A | |
| ENST00000698486.1:n.2916G>A | ||
| ENST00000698487.1:c.2461G>A | ENSP00000513753.1:p.Asp821Asn | |
| ENST00000698488.1:c.2260-140G>A | ENSP00000513754.1:n.2260-140G>A | |
| ENST00000698489.1:n.6701G>A | ||
| ENST00000698490.1:c.2461G>A | ENSP00000513755.1:p.Asp821Asn | |
| ENST00000698492.1:c.*1176G>A | ENSP00000513756.1:n.*1176G>A | |
| ENST00000698493.1:n.2751G>A | ||
| ENST00000698494.1:c.*356G>A | ENSP00000513757.1:n.*356G>A | |
| ENST00000358746.7:c.2461G>A MANE Select | ENSP00000351596.3:p.Asp821Asn | |
| ENST00000649566.1:c.2461G>A | ENSP00000497948.1:p.Asp821Asn | |
| ENST00000358746.6:c.2461G>A | ENSP00000351596.2:p.Asp821Asn | |
| ENST00000506007.1:n.43G>A | ||
| ENST00000507805.5:n.648G>A | ||
| NM_014639.3:c.2461G>A , LRG_173t1:c.2461G>A | NP_055454.1:p.Asp821Asn | |
| XR_948312.1:n.2730G>A | ||
| XR_001742370.2:n.2733G>A | ||
| NM_014639.4:c.2461G>A MANE Select | NP_055454.1:p.Asp821Asn |