Linked Data
ClinVar Variation Id:
2627762
ClinVar RCV Id:
RCV003389106
dbSNP Id:
rs1035744320
gnomAD v2:
1-173878780-A-C
gnomAD v4:
1-173909642-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909642A>C , CM000663.2:g.173909642A>C | GRCh38 |
| NC_000001.10:g.173878780A>C , CM000663.1:g.173878780A>C | GRCh37 |
| NC_000001.9:g.172145403A>C | NCBI36 |
| NG_012462.1:g.12737T>G , LRG_577:g.12737T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367698.4:c.1063T>G MANE Select | ENSP00000356671.3:p.Phe355Val | |
| ENST00000367698.3:c.1063T>G | ENSP00000356671.3:p.Phe355Val | |
| ENST00000617423.4:c.560-2149T>G | ENSP00000478688.1:n.560-2149T>G | |
| NM_000488.3:c.1063T>G , LRG_577t1:c.1063T>G | NP_000479.1:p.Phe355Val | |
| XM_005245198.2:c.919T>G | XP_005245255.1:p.Phe307Val | |
| NM_001365052.1:c.919T>G | NP_001351981.1:p.Phe307Val | |
| NM_000488.4:c.1063T>G MANE Select | NP_000479.1:p.Phe355Val | |
| NM_001365052.2:c.919T>G | NP_001351981.1:p.Phe307Val | |
| NM_001386302.1:c.1186T>G | NP_001373231.1:p.Phe396Val | |
| NM_001386303.1:c.1144T>G | NP_001373232.1:p.Phe382Val | |
| NM_001386304.1:c.1042T>G | NP_001373233.1:p.Phe348Val | |
| NM_001386305.1:c.1006T>G | NP_001373234.1:p.Phe336Val | |
| NM_001386306.1:c.847T>G | NP_001373235.1:p.Phe283Val |