Linked Data
ClinVar Variation Id:
450189
dbSNP Id:
rs199917289
ExAC:
2:73800259 A / G
gnomAD v2:
2-73800259-A-G
gnomAD v3:
2-73573132-A-G
gnomAD v4:
2-73573132-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73573132A>G , CM000664.2:g.73573132A>G | GRCh38 |
| NC_000002.11:g.73800259A>G , CM000664.1:g.73800259A>G | GRCh37 |
| NC_000002.10:g.73653767A>G | NCBI36 |
| NG_011690.1:g.192380A>G , LRG_741:g.192380A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10874A>G | ENSP00000507671.1:p.Asn3625Ser | |
| ENST00000682801.1:c.10874A>G | ENSP00000507862.1:p.Asn3625Ser | |
| ENST00000682859.1:c.10874A>G | ENSP00000508222.1:p.Asn3625Ser | |
| ENST00000683791.1:c.3960A>G | ||
| ENST00000684460.1:c.8155A>G | ||
| ENST00000684548.1:c.10874A>G | ENSP00000507421.1:p.Asn3625Ser | |
| ENST00000684590.1:c.5321A>G | ENSP00000507376.1:p.Asn1774Ser | |
| ENST00000684656.1:c.8200A>G | ||
| ENST00000613296.6:c.11255A>G MANE Select | ENSP00000482968.1:p.Asn3752Ser | |
| ENST00000651057.1:c.1409A>G | ENSP00000498504.1:p.Asn470Ser | |
| ENST00000651434.1:c.2611A>G | ||
| ENST00000651750.1:c.643A>G | ||
| ENST00000652487.1:c.2352A>G | ||
| ENST00000423048.5:c.4746A>G | ENSP00000399833.1:n.4746A>G | |
| ENST00000484298.5:c.11129A>G | ENSP00000478155.1:p.Asn3710Ser | |
| ENST00000613296.4:c.11255A>G | ENSP00000482968.1:p.Asn3752Ser | |
| ENST00000614410.4:c.11255A>G | ENSP00000479094.1:p.Asn3752Ser | |
| ENST00000620466.4:n.5058A>G | ||
| NM_015120.4:c.11258A>G , LRG_741t1:c.11258A>G | NP_055935.4:p.Asn3753Ser | |
| NM_001378454.1:c.11255A>G MANE Select | NP_001365383.1:p.Asn3752Ser |