Linked Data
ClinVar Variation Id:
778926
ClinVar RCV Id:
RCV000959660
dbSNP Id:
rs34931196
ExAC:
6:167755063 G / A
gnomAD v2:
6-167755063-G-A
gnomAD v3:
6-167341575-G-A
gnomAD v4:
6-167341575-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.167341575G>A , CM000668.2:g.167341575G>A | GRCh38 |
| NC_000006.11:g.167755063G>A , CM000668.1:g.167755063G>A | GRCh37 |
| NC_000006.10:g.167675053G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239587.10:c.1675G>A MANE Select | ENSP00000239587.5:p.Val559Ile | |
| ENST00000649884.1:c.1456G>A | ENSP00000497040.1:p.Val486Ile | |
| ENST00000239587.9:c.1675G>A | ENSP00000239587.5:p.Val559Ile | |
| ENST00000515138.1:c.1675G>A | ENSP00000424130.1:p.Val559Ile | |
| NM_031949.4:c.1675G>A | NP_114155.4:p.Val559Ile | |
| XM_006715572.2:c.1456G>A | XP_006715635.1:p.Val486Ile | |
| XM_006715572.4:c.1456G>A | XP_006715635.1:p.Val486Ile | |
| NM_031949.5:c.1675G>A MANE Select | NP_114155.4:p.Val559Ile |