Linked Data
ClinVar Variation Id:
1693711
dbSNP Id:
rs757426928
ExAC:
1:196712608 G / A
gnomAD v2:
1-196712608-G-A
gnomAD v3:
1-196743478-G-A
gnomAD v4:
1-196743478-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196743478G>A , CM000663.2:g.196743478G>A | GRCh38 |
| NC_000001.10:g.196712608G>A , CM000663.1:g.196712608G>A | GRCh37 |
| NC_000001.9:g.194979231G>A | NCBI36 |
| NG_007259.1:g.96468G>A , LRG_47:g.96468G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.4188G>A | ||
| ENST00000695970.1:c.2986G>A | ENSP00000512297.1:p.Val996Ile | |
| ENST00000695971.1:c.3139G>A | ENSP00000512298.1:p.Val1047Ile | |
| ENST00000695972.1:c.*237G>A | ENSP00000512299.1:n.*237G>A | |
| ENST00000695973.1:c.*1524G>A | ENSP00000512300.1:n.*1524G>A | |
| ENST00000695974.1:c.2983G>A | ENSP00000512301.1:p.Val995Ile | |
| ENST00000695975.1:c.*1287G>A | ENSP00000512302.1:n.*1287G>A | |
| ENST00000695976.1:c.2971G>A | ENSP00000512303.1:p.Val991Ile | |
| ENST00000695981.1:c.3160G>A | ENSP00000512306.1:p.Val1054Ile | |
| ENST00000695984.1:c.1168G>A | ENSP00000512309.1:p.Val390Ile | |
| ENST00000695986.1:c.*2811G>A | ENSP00000512311.1:n.*2811G>A | |
| ENST00000696026.1:c.*1442G>A | ENSP00000512335.1:n.*1442G>A | |
| ENST00000696027.1:c.3154G>A | ENSP00000512336.1:p.Val1052Ile | |
| ENST00000696028.1:c.3088G>A | ENSP00000512337.1:p.Val1030Ile | |
| ENST00000696029.1:c.3154G>A | ENSP00000512338.1:p.Val1052Ile | |
| ENST00000696031.1:c.*2678G>A | ENSP00000512340.1:n.*2678G>A | |
| ENST00000696032.1:c.3160G>A | ENSP00000512341.1:p.Val1054Ile | |
| ENST00000696033.1:c.1160-36319G>A | ENSP00000512342.1:n.1160-36319G>A | |
| ENST00000367429.9:c.3160G>A MANE Select | ENSP00000356399.4:p.Val1054Ile | |
| ENST00000367429.8:c.3160G>A | ENSP00000356399.4:p.Val1054Ile | |
| ENST00000466229.5:n.6258G>A | ||
| NM_000186.3:c.3160G>A , LRG_47t1:c.3160G>A | NP_000177.2:p.Val1054Ile | |
| XR_001737134.2:n.3346G>A | ||
| NM_000186.4:c.3160G>A MANE Select | NP_000177.2:p.Val1054Ile |