Linked Data
ClinVar Variation Id:
2476396
ClinVar RCV Id:
RCV004271122
dbSNP Id:
rs1388849658
gnomAD v2:
1-36772351-G-A
gnomAD v3:
1-36306750-G-A
gnomAD v4:
1-36306750-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36306750G>A , CM000663.2:g.36306750G>A | GRCh38 |
| NC_000001.10:g.36772351G>A , CM000663.1:g.36772351G>A | GRCh37 |
| NC_000001.9:g.36544938G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453908.8:c.157G>A MANE Select | ENSP00000403476.2:p.Val53Met | |
| ENST00000373139.6:c.157G>A | ENSP00000362232.2:p.Val53Met | |
| ENST00000453908.6:c.157G>A | ENSP00000403476.2:p.Val53Met | |
| NM_001162530.1:c.157G>A | NP_001156002.1:p.Val53Met | |
| XM_011542149.1:c.157G>A | XP_011540451.1:p.Val53Met | |
| XM_011542150.1:c.157G>A | XP_011540452.1:p.Val53Met | |
| XM_011542151.1:c.81+76G>A | XP_011540453.1:n.81+76G>A | |
| XM_011542152.1:c.157G>A | XP_011540454.1:p.Val53Met | |
| XM_011542153.1:c.157G>A | XP_011540455.1:p.Val53Met | |
| XM_011542154.1:c.157G>A | XP_011540456.1:p.Val53Met | |
| XM_011542153.2:c.157G>A | XP_011540455.1:p.Val53Met | |
| XM_017002340.1:c.157G>A | XP_016857829.1:p.Val53Met | |
| XM_017002341.1:c.157G>A | XP_016857830.1:p.Val53Met | |
| XM_017002342.2:c.157G>A | XP_016857831.1:p.Val53Met | |
| XM_017002343.1:c.157G>A | XP_016857832.1:p.Val53Met | |
| XM_017002344.1:c.157G>A | XP_016857833.1:p.Val53Met | |
| XM_017002345.1:c.157G>A | XP_016857834.1:p.Val53Met | |
| NM_001162530.2:c.157G>A MANE Select | NP_001156002.1:p.Val53Met |