Linked Data
ClinVar Variation Id:
1511009
ClinVar RCV Id:
RCV002014288
dbSNP Id:
rs369457688
ExAC:
7:94055814 A / G
gnomAD v2:
7-94055814-A-G
gnomAD v3:
7-94426502-A-G
gnomAD v4:
7-94426502-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94426502A>G , CM000669.2:g.94426502A>G | GRCh38 |
| NC_000007.13:g.94055814A>G , CM000669.1:g.94055814A>G | GRCh37 |
| NC_000007.12:g.93893750A>G | NCBI36 |
| NG_007405.1:g.36942A>G , LRG_2:g.36942A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.3077A>G MANE Select | ENSP00000297268.6:p.Asn1026Ser | |
| ENST00000297268.10:c.3077A>G | ENSP00000297268.6:p.Asn1026Ser | |
| ENST00000478215.1:n.636A>G | ||
| ENST00000481570.5:n.3050A>G | ||
| ENST00000620463.1:c.3071A>G | ENSP00000477719.1:p.Asn1024Ser | |
| NM_000089.3:c.3077A>G , LRG_2t1:c.3077A>G | NP_000080.2:p.Asn1026Ser | |
| NM_000089.4:c.3077A>G MANE Select | NP_000080.2:p.Asn1026Ser |