Linked Data
ClinVar Variation Id:
363139
dbSNP Id:
rs202001245
ExAC:
8:43002177 G / A
gnomAD v2:
8-43002177-G-A
gnomAD v3:
8-43147034-G-A
gnomAD v4:
8-43147034-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43147034G>A , CM000670.2:g.43147034G>A | GRCh38 |
| NC_000008.10:g.43002177G>A , CM000670.1:g.43002177G>A | GRCh37 |
| NC_000008.9:g.43121334G>A | NCBI36 |
| NG_009552.1:g.11586G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379644.9:c.205G>A MANE Select | ENSP00000368965.4:p.Val69Ile | |
| ENST00000379644.8:c.205G>A | ENSP00000368965.4:p.Val69Ile | |
| ENST00000517319.1:c.205G>A | ENSP00000430032.1:p.Val69Ile | |
| ENST00000520704.1:c.55G>A | ENSP00000429109.1:p.Val19Ile | |
| NM_152419.2:c.205G>A | NP_689632.2:p.Val69Ile | |
| XM_005273409.1:c.205G>A | XP_005273466.1:p.Val69Ile | |
| XM_005273410.1:c.205G>A | XP_005273467.1:p.Val69Ile | |
| XM_005273411.1:c.205G>A | XP_005273468.1:p.Val69Ile | |
| XM_005273412.2:c.205G>A | XP_005273469.1:p.Val69Ile | |
| NM_001363227.1:c.205G>A | NP_001350156.1:p.Val69Ile | |
| NM_001363228.1:c.205G>A | NP_001350157.1:p.Val69Ile | |
| NM_001363229.1:c.-629G>A | NP_001350158.1:n.-629G>A | |
| XM_005273412.4:c.205G>A | XP_005273469.1:p.Val69Ile | |
| NM_152419.3:c.205G>A MANE Select | NP_689632.2:p.Val69Ile | |
| NM_001363227.2:c.205G>A | NP_001350156.1:p.Val69Ile | |
| NM_001363228.2:c.205G>A | NP_001350157.1:p.Val69Ile | |
| NM_001363229.2:c.-629G>A | NP_001350158.1:n.-629G>A |