Linked Data
ClinVar Variation Id:
452146
dbSNP Id:
rs374287774
ExAC:
8:43013742 G / A
gnomAD v2:
8-43013742-G-A
gnomAD v3:
8-43158599-G-A
gnomAD v4:
8-43158599-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43158599G>A , CM000670.2:g.43158599G>A | GRCh38 |
| NC_000008.10:g.43013742G>A , CM000670.1:g.43013742G>A | GRCh37 |
| NC_000008.9:g.43132899G>A | NCBI36 |
| NG_009552.1:g.23151G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379644.9:c.259G>A MANE Select | ENSP00000368965.4:p.Val87Ile | |
| ENST00000379644.8:c.259G>A | ENSP00000368965.4:p.Val87Ile | |
| ENST00000517319.1:c.235-324G>A | ENSP00000430032.1:n.235-324G>A | |
| ENST00000520704.1:c.109G>A | ENSP00000429109.1:p.Val37Ile | |
| NM_152419.2:c.259G>A | NP_689632.2:p.Val87Ile | |
| XM_005273409.1:c.259G>A | XP_005273466.1:p.Val87Ile | |
| XM_005273410.1:c.259G>A | XP_005273467.1:p.Val87Ile | |
| XM_005273411.1:c.259G>A | XP_005273468.1:p.Val87Ile | |
| XM_005273412.2:c.259G>A | XP_005273469.1:p.Val87Ile | |
| NM_001363227.1:c.259G>A | NP_001350156.1:p.Val87Ile | |
| NM_001363228.1:c.259G>A | NP_001350157.1:p.Val87Ile | |
| NM_001363229.1:c.-575G>A | NP_001350158.1:n.-575G>A | |
| XM_005273412.4:c.259G>A | XP_005273469.1:p.Val87Ile | |
| NM_152419.3:c.259G>A MANE Select | NP_689632.2:p.Val87Ile | |
| NM_001363227.2:c.259G>A | NP_001350156.1:p.Val87Ile | |
| NM_001363228.2:c.259G>A | NP_001350157.1:p.Val87Ile | |
| NM_001363229.2:c.-575G>A | NP_001350158.1:n.-575G>A |