Linked Data
ClinVar Variation Id:
290865
dbSNP Id:
rs772602972
ExAC:
4:100530080 A / G
gnomAD v2:
4-100530080-A-G
gnomAD v3:
4-99608923-A-G
gnomAD v4:
4-99608923-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99608923A>G , CM000666.2:g.99608923A>G | GRCh38 |
| NC_000004.11:g.100530080A>G , CM000666.1:g.100530080A>G | GRCh37 |
| NC_000004.10:g.100749103A>G | NCBI36 |
| NG_011469.1:g.49841A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265517.10:c.1715A>G MANE Select | ENSP00000265517.5:p.Asn572Ser | |
| ENST00000457717.6:c.1715A>G | ENSP00000400821.1:p.Asn572Ser | |
| ENST00000511045.6:c.1466A>G | ENSP00000427679.2:p.Asn489Ser | |
| ENST00000265517.9:c.1715A>G | ENSP00000265517.5:p.Asn572Ser | |
| ENST00000457717.5:c.1715A>G | ENSP00000400821.1:p.Asn572Ser | |
| ENST00000511045.5:c.1796A>G | ENSP00000427679.1:p.Asn599Ser | |
| ENST00000619629.1:c.*162A>G | ENSP00000482850.1:n.*162A>G | |
| NM_000253.3:c.1715A>G | NP_000244.2:p.Asn572Ser | |
| NM_001300785.1:c.1796A>G | NP_001287714.1:p.Asn599Ser | |
| NM_000253.4:c.1715A>G | NP_000244.2:p.Asn572Ser | |
| NM_001300785.2:c.1466A>G | NP_001287714.2:p.Asn489Ser | |
| NM_001386140.1:c.1715A>G MANE Select | NP_001373069.1:p.Asn572Ser |