Linked Data
ClinVar Variation Id:
3169012
ClinVar RCV Id:
RCV004464891
dbSNP Id:
rs1411114730
gnomAD v2:
17-74383470-G-A
gnomAD v3:
17-76387389-G-A
gnomAD v4:
17-76387389-G-A
COSMIC:
COSM1710829
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.76387389G>A , CM000679.2:g.76387389G>A | GRCh38 |
| NC_000017.10:g.74383470G>A , CM000679.1:g.74383470G>A | GRCh37 |
| NC_000017.9:g.71895065G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592299.6:c.958G>A MANE Select | ENSP00000465726.2:p.Val320Ile | |
| ENST00000323374.8:c.1216G>A | ENSP00000313681.3:p.Val406Ile | |
| ENST00000392496.3:c.958G>A | ENSP00000376285.2:p.Val320Ile | |
| ENST00000545180.5:c.958G>A | ENSP00000440970.1:p.Val320Ile | |
| ENST00000590959.5:c.1000G>A | ENSP00000468547.1:p.Val334Ile | |
| ENST00000591762.1:n.2035G>A | ||
| ENST00000592299.5:c.958G>A | ENSP00000465726.1:p.Val320Ile | |
| NM_001142601.1:c.958G>A | NP_001136073.1:p.Val320Ile | |
| NM_001142602.1:c.958G>A | NP_001136074.1:p.Val320Ile | |
| NM_021972.3:c.1000G>A | NP_068807.2:p.Val334Ile | |
| NM_182965.2:c.1216G>A | NP_892010.2:p.Val406Ile | |
| XM_005257766.2:c.958G>A | XP_005257823.1:p.Val320Ile | |
| XM_011525439.1:c.958G>A | XP_011523741.1:p.Val320Ile | |
| NM_001355139.1:c.958G>A | NP_001342068.1:p.Val320Ile | |
| NM_001142601.2:c.958G>A MANE Select | NP_001136073.1:p.Val320Ile | |
| NM_001142602.2:c.958G>A | NP_001136074.1:p.Val320Ile | |
| NM_001355139.2:c.958G>A | NP_001342068.1:p.Val320Ile | |
| NM_021972.4:c.1000G>A | NP_068807.2:p.Val334Ile | |
| NM_182965.3:c.1216G>A | NP_892010.2:p.Val406Ile |