Linked Data
ClinVar Variation Id:
444715
dbSNP Id:
rs759291863
ExAC:
7:21611457 C / G
gnomAD v2:
7-21611457-C-G
gnomAD v4:
7-21571839-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21571839C>G , CM000669.2:g.21571839C>G | GRCh38 |
| NC_000007.13:g.21611457C>G , CM000669.1:g.21611457C>G | GRCh37 |
| NC_000007.12:g.21577982C>G | NCBI36 |
| NG_012886.2:g.33625C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.1459C>G MANE Select | ENSP00000475939.1:p.Leu487Val | |
| ENST00000328843.10:c.1459C>G | ENSP00000330671.7:p.Leu487Val | |
| ENST00000409508.7:c.1459C>G | ENSP00000475939.1:p.Leu487Val | |
| ENST00000620169.4:c.1459C>G | ENSP00000481693.1:p.Leu487Val | |
| NM_001277115.1:c.1459C>G | NP_001264044.1:p.Leu487Val | |
| XR_927090.1:n.563+1487G>C | ||
| XR_001745114.1:n.2793+1487G>C | ||
| NM_001277115.2:c.1459C>G MANE Select | NP_001264044.1:p.Leu487Val |