Linked Data
ClinVar Variation Id:
294544
dbSNP Id:
rs147488267
ExAC:
1:196964886 A / G
gnomAD v2:
1-196964886-A-G
gnomAD v3:
1-196995756-A-G
gnomAD v4:
1-196995756-A-G
COSMIC:
COSM32719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196995756A>G , CM000663.2:g.196995756A>G | GRCh38 |
| NC_000001.10:g.196964886A>G , CM000663.1:g.196964886A>G | GRCh37 |
| NC_000001.9:g.195231509A>G | NCBI36 |
| NG_016365.1:g.23220A>G , LRG_227:g.23220A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.392A>G | ENSP00000514393.1:p.Asn131Ser | |
| ENST00000699467.1:n.716A>G | ||
| ENST00000699468.1:c.-24-358A>G | ENSP00000514394.1:n.-24-358A>G | |
| ENST00000256785.5:c.647A>G MANE Select | ENSP00000256785.4:p.Asn216Ser | |
| ENST00000256785.4:c.647A>G | ENSP00000256785.4:p.Asn216Ser | |
| NM_030787.3:c.647A>G , LRG_227t1:c.647A>G | NP_110414.1:p.Asn216Ser | |
| XM_011510020.1:c.656A>G | XP_011508322.1:p.Asn219Ser | |
| XM_011510020.2:c.656A>G | XP_011508322.1:p.Asn219Ser | |
| NM_030787.4:c.647A>G MANE Select | NP_110414.1:p.Asn216Ser |