Linked Data
ClinVar Variation Id:
449229
dbSNP Id:
rs772185467
ExAC:
5:156186321 G / A
gnomAD v2:
5-156186321-G-A
gnomAD v3:
5-156759310-G-A
gnomAD v4:
5-156759310-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.156759310G>A , CM000667.2:g.156759310G>A | GRCh38 |
| NC_000005.9:g.156186321G>A , CM000667.1:g.156186321G>A | GRCh37 |
| NC_000005.8:g.156118899G>A | NCBI36 |
| NG_008693.2:g.893968G>A , LRG_205:g.893968G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337851.9:c.793G>A MANE Select | ENSP00000338343.4:p.Val265Ile | |
| ENST00000337851.8:c.793G>A | ENSP00000338343.4:p.Val265Ile | |
| ENST00000435422.7:c.790G>A | ENSP00000403003.2:p.Val264Ile | |
| NM_000337.5:c.793G>A , LRG_205t1:c.793G>A | NP_000328.2:p.Val265Ile | |
| NM_001128209.1:c.790G>A | NP_001121681.1:p.Val264Ile | |
| XM_005265966.3:c.793G>A | XP_005266023.1:p.Val265Ile | |
| XM_006714911.2:c.793G>A | XP_006714974.1:p.Val265Ile | |
| XM_011534621.1:c.790G>A | XP_011532923.1:p.Val264Ile | |
| XM_005265966.5:c.793G>A | XP_005266023.1:p.Val265Ile | |
| XM_011534621.2:c.790G>A | XP_011532923.1:p.Val264Ile | |
| XM_017009723.2:c.793G>A | XP_016865212.1:p.Val265Ile | |
| XM_017009724.1:c.793G>A | XP_016865213.1:p.Val265Ile | |
| NM_001128209.2:c.790G>A | NP_001121681.1:p.Val264Ile | |
| NM_000337.6:c.793G>A MANE Select | NP_000328.2:p.Val265Ile |