Linked Data
ClinVar Variation Id:
1367124
dbSNP Id:
rs1172819191
gnomAD v2:
9-138641945-G-A
gnomAD v3:
9-135750099-G-A
gnomAD v4:
9-135750099-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135750099G>A , CM000671.2:g.135750099G>A | GRCh38 |
| NC_000009.11:g.138641945G>A , CM000671.1:g.138641945G>A | GRCh37 |
| NC_000009.10:g.137781766G>A | NCBI36 |
| NG_033070.1:g.52915G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.256G>A MANE Select | ENSP00000360822.2:p.Val86Ile | |
| ENST00000637018.1:n.61G>A | ||
| ENST00000674572.1:c.97G>A | ENSP00000501742.1:p.Val33Ile | |
| ENST00000675090.1:c.4G>A | ENSP00000501833.1:p.Val2Ile | |
| ENST00000675399.1:c.4G>A | ENSP00000501932.1:p.Val2Ile | |
| ENST00000676421.1:c.4G>A | ENSP00000502322.1:p.Val2Ile | |
| ENST00000263604.5:c.157G>A | ENSP00000263604.4:p.Val53Ile | |
| ENST00000371757.6:c.256G>A | ENSP00000360822.2:p.Val86Ile | |
| ENST00000460750.5:c.256G>A | ENSP00000418777.1:p.Val86Ile | |
| ENST00000473941.5:c.97G>A | ENSP00000420764.1:p.Val33Ile | |
| ENST00000486577.6:c.139G>A | ENSP00000417578.3:p.Val47Ile | |
| ENST00000487664.5:c.256G>A | ENSP00000417851.2:p.Val86Ile | |
| ENST00000488444.6:c.199G>A | ENSP00000419007.3:p.Val67Ile | |
| ENST00000490355.6:c.199G>A | ENSP00000418003.3:p.Val67Ile | |
| ENST00000491806.6:c.199G>A | ENSP00000419086.3:p.Val67Ile | |
| ENST00000628528.2:c.112G>A | ENSP00000486374.1:p.Val38Ile | |
| ENST00000630792.2:c.97G>A | ENSP00000486486.1:p.Val33Ile | |
| ENST00000631073.2:c.199G>A | ENSP00000486130.1:p.Val67Ile | |
| NM_001272003.1:c.112G>A | NP_001258932.1:p.Val38Ile | |
| NM_020822.2:c.256G>A | NP_065873.2:p.Val86Ile | |
| XM_011518877.1:c.391G>A | XP_011517179.1:p.Val131Ile | |
| XM_011518878.1:c.391G>A | XP_011517180.1:p.Val131Ile | |
| XM_011518879.1:c.391G>A | XP_011517181.1:p.Val131Ile | |
| XM_011518880.1:c.157G>A | XP_011517182.1:p.Val53Ile | |
| XM_011518877.3:c.391G>A | XP_011517179.1:p.Val131Ile | |
| XM_011518878.3:c.391G>A | XP_011517180.1:p.Val131Ile | |
| XM_011518879.3:c.391G>A | XP_011517181.1:p.Val131Ile | |
| XM_017014931.1:c.281G>A | XP_016870420.1:p.Gly94Asp | |
| XM_017014932.1:c.4G>A | XP_016870421.1:p.Val2Ile | |
| XM_017014933.1:c.-164G>A | XP_016870422.1:n.-164G>A | |
| XM_024447617.1:c.-264G>A | XP_024303385.1:n.-264G>A | |
| XM_024447618.1:c.-264G>A | XP_024303386.1:n.-264G>A | |
| NM_020822.3:c.256G>A MANE Select | NP_065873.2:p.Val86Ile | |
| NM_001272003.2:c.112G>A | NP_001258932.1:p.Val38Ile |