Linked Data
ClinVar Variation Id:
2175516
ClinVar RCV Id:
RCV002579284
dbSNP Id:
rs781773640
ExAC:
18:47110119 G / A
gnomAD v2:
18-47110119-G-A
gnomAD v3:
18-49583749-G-A
gnomAD v4:
18-49583749-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49583749G>A , CM000680.2:g.49583749G>A | GRCh38 |
| NC_000018.9:g.47110119G>A , CM000680.1:g.47110119G>A | GRCh37 |
| NC_000018.8:g.45364117G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261292.9:c.1351G>A MANE Select | ENSP00000261292.4:p.Val451Met | |
| ENST00000261292.8:c.1351G>A | ENSP00000261292.4:p.Val451Met | |
| ENST00000427224.6:c.1129G>A | ENSP00000387978.2:p.Val377Met | |
| NM_001308006.1:c.1129G>A | NP_001294935.1:p.Val377Met | |
| NM_006033.2:c.1351G>A | NP_006024.1:p.Val451Met | |
| NM_006033.3:c.1351G>A | NP_006024.1:p.Val451Met | |
| XM_005258390.1:c.1459G>A | XP_005258447.1:p.Val487Met | |
| XM_011526265.1:c.1237G>A | XP_011524567.1:p.Val413Met | |
| XM_011526267.1:c.1111G>A | XP_011524569.1:p.Val371Met | |
| XM_011526265.3:c.1237G>A | XP_011524567.1:p.Val413Met | |
| XM_017026095.1:c.760G>A | XP_016881584.1:p.Val254Met | |
| NM_006033.4:c.1351G>A MANE Select | NP_006024.1:p.Val451Met | |
| NM_001308006.2:c.1129G>A | NP_001294935.1:p.Val377Met |