Linked Data
ClinVar Variation Id:
267286
dbSNP Id:
rs886039754
gnomAD v2:
16-56919270-A-G
gnomAD v4:
16-56885358-A-G
PubMed:
PMID:29378538
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56885358A>G , CM000678.2:g.56885358A>G | GRCh38 |
| NC_000016.9:g.56919270A>G , CM000678.1:g.56919270A>G | GRCh37 |
| NC_000016.8:g.55476771A>G | NCBI36 |
| NG_009386.1:g.25152A>G | |
| NG_009386.2:g.25152A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000563236.6:c.1919A>G MANE Select | ENSP00000456149.2:p.Asn640Ser | |
| ENST00000262502.5:c.1916A>G | ENSP00000262502.5:p.Asn639Ser | |
| ENST00000438926.6:c.1919A>G | ENSP00000402152.2:p.Asn640Ser | |
| ENST00000563236.5:c.1919A>G | ENSP00000456149.1:p.Asn640Ser | |
| ENST00000566786.5:c.1916A>G | ENSP00000457552.1:p.Asn639Ser | |
| NM_000339.2:c.1919A>G | NP_000330.2:p.Asn640Ser | |
| NM_001126107.1:c.1916A>G | NP_001119579.1:p.Asn639Ser | |
| NM_001126108.1:c.1919A>G | NP_001119580.1:p.Asn640Ser | |
| XM_005256119.1:c.1916A>G | XP_005256176.1:p.Asn639Ser | |
| XM_005256119.2:c.1916A>G | XP_005256176.1:p.Asn639Ser | |
| NM_000339.3:c.1919A>G | NP_000330.3:p.Asn640Ser | |
| NM_001126107.2:c.1916A>G | NP_001119579.2:p.Asn639Ser | |
| NM_001126108.2:c.1919A>G MANE Select | NP_001119580.2:p.Asn640Ser |