Linked Data
ClinVar Variation Id:
390229
dbSNP Id:
rs373276446
ExAC:
1:160106751 G / A
gnomAD v2:
1-160106751-G-A
gnomAD v4:
1-160136961-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160136961G>A , CM000663.2:g.160136961G>A | GRCh38 |
| NC_000001.10:g.160106751G>A , CM000663.1:g.160106751G>A | GRCh37 |
| NC_000001.9:g.158373375G>A | NCBI36 |
| NG_008014.1:g.26204G>A , LRG_6:g.26204G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361216.8:c.2770G>A MANE Select | ENSP00000354490.3:p.Val924Met | |
| ENST00000361216.7:c.2770G>A | ENSP00000354490.3:p.Val924Met | |
| ENST00000392233.7:c.2770G>A | ENSP00000376066.3:p.Val924Met | |
| ENST00000447527.1:c.1851G>A | ||
| ENST00000463989.1:n.106G>A | ||
| ENST00000472488.5:n.2873G>A | ||
| NM_000702.3:c.2770G>A | NP_000693.1:p.Val924Met | |
| NM_000702.4:c.2770G>A MANE Select | NP_000693.1:p.Val924Met |