Linked Data
ClinVar Variation Id:
3090473
ClinVar RCV Id:
RCV004380892
dbSNP Id:
rs556808660
ExAC:
12:53684625 G / A
gnomAD v2:
12-53684625-G-A
gnomAD v3:
12-53290841-G-A
gnomAD v4:
12-53290841-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53290841G>A , CM000674.2:g.53290841G>A | GRCh38 |
| NC_000012.11:g.53684625G>A , CM000674.1:g.53684625G>A | GRCh37 |
| NC_000012.10:g.51970892G>A | NCBI36 |
| NG_029695.1:g.391G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257934.9:c.5365G>A MANE Select | ENSP00000257934.4:p.Val1789Ile | |
| ENST00000257934.8:c.5365G>A | ENSP00000257934.4:p.Val1789Ile | |
| ENST00000549154.1:n.2919G>A | ||
| ENST00000552462.1:c.5365G>A | ENSP00000449831.1:p.Val1789Ile | |
| ENST00000552671.5:c.*5296G>A | ENSP00000447054.1:n.*5296G>A | |
| NM_012291.4:c.5365G>A | NP_036423.4:p.Val1789Ile | |
| XM_006719705.2:c.5365G>A | XP_006719768.1:p.Val1789Ile | |
| XM_011539024.1:c.5365G>A | XP_011537326.1:p.Val1789Ile | |
| XM_011539025.1:c.5365G>A | XP_011537327.1:p.Val1789Ile | |
| XM_006719705.3:c.5365G>A | XP_006719768.1:p.Val1789Ile | |
| XM_011539024.2:c.5365G>A | XP_011537326.1:p.Val1789Ile | |
| XM_011539025.2:c.5365G>A | XP_011537327.1:p.Val1789Ile | |
| XM_017020253.1:c.4390G>A | XP_016875742.1:p.Val1464Ile | |
| NM_012291.5:c.5365G>A MANE Select | NP_036423.4:p.Val1789Ile |