Linked Data
ClinVar Variation Id:
185391
ClinVar RCV Id:
RCV000164801
RCV000198244
RCV000236550
RCV000657054
RCV001155352
RCV003995365
RCV003316030
dbSNP Id:
rs367804502
ExAC:
5:112173401 G / A
gnomAD v2:
5-112173401-G-A
gnomAD v3:
5-112837704-G-A
gnomAD v4:
5-112837704-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112837704G>A , CM000667.2:g.112837704G>A | GRCh38 |
| NC_000005.9:g.112173401G>A , CM000667.1:g.112173401G>A | GRCh37 |
| NC_000005.8:g.112201300G>A | NCBI36 |
| NG_008481.4:g.150184G>A , LRG_130:g.150184G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1775G>A | ENSP00000484935.2:n.1775G>A | |
| ENST00000504915.3:c.2164G>A | ENSP00000473355.2:p.Val722Ile | |
| ENST00000505350.2:c.*2116G>A | ENSP00000481752.1:n.*2116G>A | |
| ENST00000507379.6:c.2056G>A | ENSP00000423224.2:p.Val686Ile | |
| ENST00000509732.6:c.2110G>A | ENSP00000426541.2:p.Val704Ile | |
| ENST00000512211.7:c.2110G>A | ENSP00000423828.3:p.Val704Ile | |
| ENST00000257430.9:c.2110G>A MANE Select | ENSP00000257430.4:p.Val704Ile | |
| ENST00000257430.8:c.2110G>A | ENSP00000257430.4:p.Val704Ile | |
| ENST00000502371.2:c.463G>A | ||
| ENST00000504915.2:c.799G>A | ENSP00000473355.1:p.Val267Ile | |
| ENST00000507379.5:c.2056G>A | ENSP00000423224.1:p.Val686Ile | |
| ENST00000508376.6:c.2110G>A | ENSP00000427089.2:p.Val704Ile | |
| ENST00000508624.5:c.*1432G>A | ENSP00000424265.1:n.*1432G>A | |
| ENST00000512211.6:c.2110G>A | ENSP00000423828.2:p.Val704Ile | |
| ENST00000520401.1:c.230+8732G>A | ||
| NM_000038.5:c.2110G>A | NP_000029.2:p.Val704Ile | |
| NM_001127510.2:c.2110G>A | NP_001120982.1:p.Val704Ile | |
| NM_001127511.2:c.2056G>A | NP_001120983.2:p.Val686Ile | |
| NM_001354895.1:c.2110G>A | NP_001341824.1:p.Val704Ile | |
| NM_001354896.1:c.2164G>A | NP_001341825.1:p.Val722Ile | |
| NM_001354897.1:c.2140G>A | NP_001341826.1:p.Val714Ile | |
| NM_001354898.1:c.2035G>A | NP_001341827.1:p.Val679Ile | |
| NM_001354899.1:c.2026G>A | NP_001341828.1:p.Val676Ile | |
| NM_001354900.1:c.1987G>A | NP_001341829.1:p.Val663Ile | |
| NM_001354901.1:c.1933G>A | NP_001341830.1:p.Val645Ile | |
| NM_001354902.1:c.1837G>A | NP_001341831.1:p.Val613Ile | |
| NM_001354903.1:c.1807G>A | NP_001341832.1:p.Val603Ile | |
| NM_001354904.1:c.1732G>A | NP_001341833.1:p.Val578Ile | |
| NM_001354905.1:c.1630G>A | NP_001341834.1:p.Val544Ile | |
| NM_001354906.1:c.1261G>A | NP_001341835.1:p.Val421Ile | |
| NM_000038.6:c.2110G>A MANE Select | NP_000029.2:p.Val704Ile | |
| NM_001127510.3:c.2110G>A | NP_001120982.1:p.Val704Ile | |
| NM_001127511.3:c.2056G>A | NP_001120983.2:p.Val686Ile | |
| NM_001354895.2:c.2110G>A | NP_001341824.1:p.Val704Ile | |
| NM_001354896.2:c.2164G>A | NP_001341825.1:p.Val722Ile | |
| NM_001354897.2:c.2140G>A | NP_001341826.1:p.Val714Ile | |
| NM_001354898.2:c.2035G>A | NP_001341827.1:p.Val679Ile | |
| NM_001354899.2:c.2026G>A | NP_001341828.1:p.Val676Ile | |
| NM_001354900.2:c.1987G>A | NP_001341829.1:p.Val663Ile | |
| NM_001354901.2:c.1933G>A | NP_001341830.1:p.Val645Ile | |
| NM_001354902.2:c.1837G>A | NP_001341831.1:p.Val613Ile | |
| NM_001354903.2:c.1807G>A | NP_001341832.1:p.Val603Ile | |
| NM_001354904.2:c.1732G>A | NP_001341833.1:p.Val578Ile | |
| NM_001354905.2:c.1630G>A | NP_001341834.1:p.Val544Ile | |
| NM_001354906.2:c.1261G>A | NP_001341835.1:p.Val421Ile |