Linked Data
ClinVar Variation Id:
392737
dbSNP Id:
rs745927130
ExAC:
2:145156132 A / T
gnomAD v2:
2-145156132-A-T
gnomAD v3:
2-144398565-A-T
gnomAD v4:
2-144398565-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144398565A>T , CM000664.2:g.144398565A>T | GRCh38 |
| NC_000002.11:g.145156132A>T , CM000664.1:g.145156132A>T | GRCh37 |
| NC_000002.10:g.144872602A>T | NCBI36 |
| NG_016431.1:g.126827T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*2471T>A | ENSP00000508434.1:n.*2471T>A | |
| ENST00000440875.6:c.1845T>A | ENSP00000475553.3:p.Asn615Lys | |
| ENST00000627532.3:c.2622T>A MANE Select | ENSP00000487174.1:p.Asn874Lys | |
| ENST00000636026.2:c.2622T>A | ENSP00000490776.1:p.Asn874Lys | |
| ENST00000636179.1:n.2591T>A | ||
| ENST00000636413.1:c.2286T>A | ENSP00000490508.1:p.Asn762Lys | |
| ENST00000636471.1:c.2697T>A | ENSP00000490317.1:p.Asn899Lys | |
| ENST00000636732.2:c.*2339T>A | ENSP00000490175.1:n.*2339T>A | |
| ENST00000636820.1:n.2722T>A | ||
| ENST00000637045.1:c.2286T>A | ENSP00000490141.1:p.Asn762Lys | |
| ENST00000637304.1:c.2286T>A | ENSP00000490872.1:p.Asn762Lys | |
| ENST00000638007.1:c.2286T>A | ENSP00000490723.1:p.Asn762Lys | |
| ENST00000638087.1:c.2286T>A | ENSP00000490673.1:p.Asn762Lys | |
| ENST00000638128.1:c.1845T>A | ENSP00000490934.1:p.Asn615Lys | |
| ENST00000675069.1:c.153T>A | ENSP00000502467.1:p.Asn51Lys | |
| ENST00000303660.8:c.2619T>A | ENSP00000302501.4:p.Asn873Lys | |
| ENST00000409487.7:c.2622T>A | ENSP00000386854.2:p.Asn874Lys | |
| ENST00000419938.5:c.655+2634T>A | ENSP00000394777.2:n.655+2634T>A | |
| ENST00000440875.5:c.1168-637T>A | ENSP00000475553.2:n.1168-637T>A | |
| ENST00000539609.7:c.2550T>A | ENSP00000443792.2:p.Asn850Lys | |
| ENST00000558170.6:c.2622T>A | ENSP00000454157.1:p.Asn874Lys | |
| ENST00000627532.2:c.2622T>A | ENSP00000487174.1:p.Asn874Lys | |
| NM_001171653.1:c.2550T>A | NP_001165124.1:p.Asn850Lys | |
| NM_014795.3:c.2622T>A | NP_055610.1:p.Asn874Lys | |
| XM_006712881.2:c.2622T>A | XP_006712944.1:p.Asn874Lys | |
| XM_006712882.2:c.2622T>A | XP_006712945.1:p.Asn874Lys | |
| XM_011512231.1:c.2613T>A | XP_011510533.1:p.Asn871Lys | |
| XM_011512232.1:c.2601T>A | XP_011510534.1:p.Asn867Lys | |
| NM_014795.4:c.2622T>A MANE Select | NP_055610.1:p.Asn874Lys | |
| NM_001171653.2:c.2550T>A | NP_001165124.1:p.Asn850Lys |