Linked Data
dbSNP Id:
rs1487453001
gnomAD v2:
2-145156885-G-T
gnomAD v3:
2-144399318-G-T
gnomAD v4:
2-144399318-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144399318G>T , CM000664.2:g.144399318G>T | GRCh38 |
| NC_000002.11:g.145156885G>T , CM000664.1:g.145156885G>T | GRCh37 |
| NC_000002.10:g.144873355G>T | NCBI36 |
| NG_016431.1:g.126074C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*1718C>A | ENSP00000508434.1:n.*1718C>A | |
| ENST00000440875.6:c.1092C>A | ENSP00000475553.3:p.Asn364Lys | |
| ENST00000627532.3:c.1869C>A MANE Select | ENSP00000487174.1:p.Asn623Lys | |
| ENST00000636026.2:c.1869C>A | ENSP00000490776.1:p.Asn623Lys | |
| ENST00000636179.1:n.1838C>A | ||
| ENST00000636413.1:c.1533C>A | ENSP00000490508.1:p.Asn511Lys | |
| ENST00000636471.1:c.1944C>A | ENSP00000490317.1:p.Asn648Lys | |
| ENST00000636732.2:c.*1586C>A | ENSP00000490175.1:n.*1586C>A | |
| ENST00000636820.1:n.1969C>A | ||
| ENST00000637045.1:c.1533C>A | ENSP00000490141.1:p.Asn511Lys | |
| ENST00000637304.1:c.1533C>A | ENSP00000490872.1:p.Asn511Lys | |
| ENST00000638007.1:c.1533C>A | ENSP00000490723.1:p.Asn511Lys | |
| ENST00000638087.1:c.1533C>A | ENSP00000490673.1:p.Asn511Lys | |
| ENST00000638128.1:c.1092C>A | ENSP00000490934.1:p.Asn364Lys | |
| ENST00000675069.1:c.-133-468C>A | ENSP00000502467.1:n.-133-468C>A | |
| ENST00000675145.1:n.2417C>A | ||
| ENST00000303660.8:c.1866C>A | ENSP00000302501.4:p.Asn622Lys | |
| ENST00000409487.7:c.1869C>A | ENSP00000386854.2:p.Asn623Lys | |
| ENST00000419938.5:c.655+1881C>A | ENSP00000394777.2:n.655+1881C>A | |
| ENST00000427902.5:c.1956C>A | ENSP00000395496.2:p.Asn652Lys | |
| ENST00000440875.5:c.1167+219C>A | ENSP00000475553.2:n.1167+219C>A | |
| ENST00000539609.7:c.1797C>A | ENSP00000443792.2:p.Asn599Lys | |
| ENST00000558170.6:c.1869C>A | ENSP00000454157.1:p.Asn623Lys | |
| ENST00000627532.2:c.1869C>A | ENSP00000487174.1:p.Asn623Lys | |
| NM_001171653.1:c.1797C>A | NP_001165124.1:p.Asn599Lys | |
| NM_014795.3:c.1869C>A | NP_055610.1:p.Asn623Lys | |
| XM_006712881.2:c.1869C>A | XP_006712944.1:p.Asn623Lys | |
| XM_006712882.2:c.1869C>A | XP_006712945.1:p.Asn623Lys | |
| XM_011512231.1:c.1860C>A | XP_011510533.1:p.Asn620Lys | |
| XM_011512232.1:c.1848C>A | XP_011510534.1:p.Asn616Lys | |
| NM_014795.4:c.1869C>A MANE Select | NP_055610.1:p.Asn623Lys | |
| NM_001171653.2:c.1797C>A | NP_001165124.1:p.Asn599Lys |