Linked Data
ClinVar Variation Id:
359610
ClinVar RCV Id:
RCV000375086
dbSNP Id:
rs551038953
ExAC:
7:21629008 A / G
gnomAD v2:
7-21629008-A-G
gnomAD v3:
7-21589390-A-G
gnomAD v4:
7-21589390-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21589390A>G , CM000669.2:g.21589390A>G | GRCh38 |
| NC_000007.13:g.21629008A>G , CM000669.1:g.21629008A>G | GRCh37 |
| NC_000007.12:g.21595533A>G | NCBI36 |
| NG_012886.2:g.51176A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.2156A>G MANE Select | ENSP00000475939.1:p.Asn719Ser | |
| ENST00000328843.10:c.2156A>G | ENSP00000330671.7:p.Asn719Ser | |
| ENST00000409508.7:c.2156A>G | ENSP00000475939.1:p.Asn719Ser | |
| ENST00000620169.4:c.2156A>G | ENSP00000481693.1:p.Asn719Ser | |
| NM_001277115.1:c.2156A>G | NP_001264044.1:p.Asn719Ser | |
| NM_001277115.2:c.2156A>G MANE Select | NP_001264044.1:p.Asn719Ser |