Linked Data
ClinVar Variation Id:
1428872
ClinVar RCV Id:
RCV001936520
dbSNP Id:
rs140018158
ExAC:
16:88907410 C / T
gnomAD v2:
16-88907410-C-T
gnomAD v3:
16-88841002-C-T
gnomAD v4:
16-88841002-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88841002C>T , CM000678.2:g.88841002C>T | GRCh38 |
| NC_000016.9:g.88907410C>T , CM000678.1:g.88907410C>T | GRCh37 |
| NC_000016.8:g.87434911C>T | NCBI36 |
| NG_008667.1:g.20965G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.412G>A MANE Select | ENSP00000268695.5:p.Val138Ile | |
| ENST00000268695.9:c.412G>A | ENSP00000268695.5:p.Val138Ile | |
| ENST00000562593.5:n.3821G>A | ||
| ENST00000562831.1:c.196G>A | ENSP00000455174.1:p.Val66Ile | |
| ENST00000565364.1:n.547G>A | ||
| ENST00000567525.5:c.237G>A | ENSP00000454484.1:n.237G>A | |
| ENST00000567779.1:n.242G>A | ||
| ENST00000568613.5:c.531G>A | ENSP00000457921.1:n.531G>A | |
| NM_000512.4:c.412G>A | NP_000503.1:p.Val138Ile | |
| XM_005256301.2:c.412G>A | XP_005256358.1:p.Val138Ile | |
| XM_005256302.1:c.430G>A | XP_005256359.1:p.Val144Ile | |
| XM_011522982.1:c.430G>A | XP_011521284.1:p.Val144Ile | |
| XM_011522984.1:c.430G>A | XP_011521286.1:p.Val144Ile | |
| NM_001323543.1:c.-144G>A | NP_001310472.1:n.-144G>A | |
| NM_001323544.1:c.430G>A | NP_001310473.1:p.Val144Ile | |
| XM_005256301.3:c.412G>A | XP_005256358.1:p.Val138Ile | |
| XM_011522982.2:c.430G>A | XP_011521284.1:p.Val144Ile | |
| XM_017023111.2:c.430G>A | XP_016878600.1:p.Val144Ile | |
| XM_017023112.2:c.430G>A | XP_016878601.1:p.Val144Ile | |
| XM_017023113.1:c.-144G>A | XP_016878602.1:n.-144G>A | |
| NM_000512.5:c.412G>A MANE Select | NP_000503.1:p.Val138Ile | |
| NM_001323543.2:c.-144G>A | NP_001310472.1:n.-144G>A | |
| NM_001323544.2:c.430G>A | NP_001310473.1:p.Val144Ile |