Linked Data
ClinVar Variation Id:
319425
dbSNP Id:
rs187264529
ExAC:
16:50733599 G / A
gnomAD v2:
16-50733599-G-A
gnomAD v3:
16-50699688-G-A
gnomAD v4:
16-50699688-G-A
COSMIC:
COSM4579074
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50699688G>A , CM000678.2:g.50699688G>A | GRCh38 |
| NC_000016.9:g.50733599G>A , CM000678.1:g.50733599G>A | GRCh37 |
| NC_000016.8:g.49291100G>A | NCBI36 |
| NG_007508.1:g.7550G>A , LRG_177:g.7550G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641284.2:c.193G>A | ENSP00000493088.1:p.Val65Ile | |
| ENST00000646677.2:c.193G>A | ENSP00000496533.1:p.Val65Ile | |
| ENST00000641284.1:c.193G>A | ENSP00000493088.1:p.Val65Ile | |
| ENST00000646677.1:c.193G>A | ENSP00000496533.1:p.Val65Ile | |
| ENST00000647318.2:c.193G>A MANE Select | ENSP00000495993.1:p.Val65Ile | |
| ENST00000300589.6:c.274G>A | ENSP00000300589.2:p.Val92Ile | |
| ENST00000526417.6:n.261G>A | ||
| ENST00000527070.5:c.*889G>A | ENSP00000435149.1:n.*889G>A | |
| ENST00000531674.1:c.193G>A | ENSP00000431681.1:p.Val65Ile | |
| ENST00000532206.1:n.378G>A | ||
| NM_001293557.1:c.193G>A | NP_001280486.1:p.Val65Ile | |
| NM_022162.2:c.274G>A | NP_071445.1:p.Val92Ile | |
| XM_005256084.2:c.193G>A | XP_005256141.1:p.Val65Ile | |
| XM_006721242.2:c.193G>A | XP_006721305.1:p.Val65Ile | |
| XM_006721243.2:c.193G>A | XP_006721306.1:p.Val65Ile | |
| XM_011523258.1:c.-38+6026G>A | XP_011521560.1:n.-38+6026G>A | |
| XM_011523259.1:c.-287G>A | XP_011521561.1:n.-287G>A | |
| XM_011523260.1:c.193G>A | XP_011521562.1:p.Val65Ile | |
| XM_011523261.1:c.193G>A | XP_011521563.1:p.Val65Ile | |
| XR_429725.2:n.283G>A | ||
| XR_429726.2:n.283G>A | ||
| XR_933387.1:n.283G>A | ||
| XM_005256084.4:c.193G>A | XP_005256141.1:p.Val65Ile | |
| XM_006721242.4:c.193G>A | XP_006721305.1:p.Val65Ile | |
| XM_006721243.4:c.193G>A | XP_006721306.1:p.Val65Ile | |
| XM_011523259.2:c.-287G>A | XP_011521561.1:n.-287G>A | |
| XM_011523260.3:c.193G>A | XP_011521562.1:p.Val65Ile | |
| XM_011523261.2:c.193G>A | XP_011521563.1:p.Val65Ile | |
| XM_017023536.1:c.-127+6026G>A | XP_016879025.1:n.-127+6026G>A | |
| XM_017023537.1:c.-21+6026G>A | XP_016879026.1:n.-21+6026G>A | |
| XR_429725.3:n.236G>A | ||
| XR_429726.3:n.236G>A | ||
| XR_933387.2:n.236G>A | ||
| NM_001293557.2:c.193G>A | NP_001280486.1:p.Val65Ile | |
| NM_001370466.1:c.193G>A MANE Select | NP_001357395.1:p.Val65Ile | |
| NM_022162.3:c.274G>A | NP_071445.1:p.Val92Ile | |
| NR_163434.1:n.258G>A |