Linked Data
ClinVar Variation Id:
2856804
ClinVar RCV Id:
RCV003696591
dbSNP Id:
rs575505679
gnomAD v4:
7-107674175-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107674175G>A , CM000669.2:g.107674175G>A | GRCh38 |
| NC_000007.13:g.107314620G>A , CM000669.1:g.107314620G>A | GRCh37 |
| NC_000007.12:g.107101856G>A | NCBI36 |
| NG_008489.1:g.18541G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.427G>A MANE Select | ENSP00000494017.1:p.Val143Met | |
| ENST00000265715.7:c.427G>A | ENSP00000265715.3:p.Val143Met | |
| NM_000441.1:c.427G>A | NP_000432.1:p.Val143Met | |
| XM_005250425.1:c.427G>A | XP_005250482.1:p.Val143Met | |
| XM_006716025.2:c.427G>A | XP_006716088.1:p.Val143Met | |
| XM_005250425.2:c.427G>A | XP_005250482.1:p.Val143Met | |
| XM_006716025.3:c.427G>A | XP_006716088.1:p.Val143Met | |
| XM_017012318.1:c.427G>A | XP_016867807.1:p.Val143Met | |
| NM_000441.2:c.427G>A MANE Select | NP_000432.1:p.Val143Met |