Linked Data
ClinVar Variation Id:
376823
dbSNP Id:
rs760409547
ExAC:
7:21784506 C / A
gnomAD v2:
7-21784506-C-A
gnomAD v3:
7-21744888-C-A
gnomAD v4:
7-21744888-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21744888C>A , CM000669.2:g.21744888C>A | GRCh38 |
| NC_000007.13:g.21784506C>A , CM000669.1:g.21784506C>A | GRCh37 |
| NC_000007.12:g.21751031C>A | NCBI36 |
| NG_012886.2:g.206674C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.8335C>A MANE Select | ENSP00000475939.1:p.Leu2779Met | |
| ENST00000328843.10:c.8356C>A | ENSP00000330671.7:p.Leu2786Met | |
| ENST00000409508.7:c.8335C>A | ENSP00000475939.1:p.Leu2779Met | |
| ENST00000605912.1:c.493C>A | ENSP00000476068.1:p.Leu165Met | |
| ENST00000620169.4:c.8356C>A | ENSP00000481693.1:p.Leu2786Met | |
| NM_001277115.1:c.8335C>A | NP_001264044.1:p.Leu2779Met | |
| NM_001277115.2:c.8335C>A MANE Select | NP_001264044.1:p.Leu2779Met |