Linked Data
ClinVar Variation Id:
1399922
ClinVar RCV Id:
RCV001925034
dbSNP Id:
rs776230690
ExAC:
5:112170828 G / A
gnomAD v2:
5-112170828-G-A
gnomAD v4:
5-112835131-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112835131G>A , CM000667.2:g.112835131G>A | GRCh38 |
| NC_000005.9:g.112170828G>A , CM000667.1:g.112170828G>A | GRCh37 |
| NC_000005.8:g.112198727G>A | NCBI36 |
| NG_008481.4:g.147611G>A , LRG_130:g.147611G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1589G>A | ENSP00000484935.2:n.1589G>A | |
| ENST00000504915.3:c.1978G>A | ENSP00000473355.2:p.Val660Met | |
| ENST00000505350.2:c.*1930G>A | ENSP00000481752.1:n.*1930G>A | |
| ENST00000507379.6:c.1870G>A | ENSP00000423224.2:p.Val624Met | |
| ENST00000509732.6:c.1924G>A | ENSP00000426541.2:p.Val642Met | |
| ENST00000512211.7:c.1924G>A | ENSP00000423828.3:p.Val642Met | |
| ENST00000257430.9:c.1924G>A MANE Select | ENSP00000257430.4:p.Val642Met | |
| ENST00000257430.8:c.1924G>A | ENSP00000257430.4:p.Val642Met | |
| ENST00000502371.2:c.277G>A | ||
| ENST00000504915.2:c.613G>A | ENSP00000473355.1:p.Val205Met | |
| ENST00000507379.5:c.1870G>A | ENSP00000423224.1:p.Val624Met | |
| ENST00000508376.6:c.1924G>A | ENSP00000427089.2:p.Val642Met | |
| ENST00000508624.5:c.*1246G>A | ENSP00000424265.1:n.*1246G>A | |
| ENST00000512211.6:c.1924G>A | ENSP00000423828.2:p.Val642Met | |
| ENST00000520401.1:c.230+6159G>A | ||
| NM_000038.5:c.1924G>A | NP_000029.2:p.Val642Met | |
| NM_001127510.2:c.1924G>A | NP_001120982.1:p.Val642Met | |
| NM_001127511.2:c.1870G>A | NP_001120983.2:p.Val624Met | |
| NM_001354895.1:c.1924G>A | NP_001341824.1:p.Val642Met | |
| NM_001354896.1:c.1978G>A | NP_001341825.1:p.Val660Met | |
| NM_001354897.1:c.1954G>A | NP_001341826.1:p.Val652Met | |
| NM_001354898.1:c.1849G>A | NP_001341827.1:p.Val617Met | |
| NM_001354899.1:c.1840G>A | NP_001341828.1:p.Val614Met | |
| NM_001354900.1:c.1801G>A | NP_001341829.1:p.Val601Met | |
| NM_001354901.1:c.1747G>A | NP_001341830.1:p.Val583Met | |
| NM_001354902.1:c.1651G>A | NP_001341831.1:p.Val551Met | |
| NM_001354903.1:c.1621G>A | NP_001341832.1:p.Val541Met | |
| NM_001354904.1:c.1546G>A | NP_001341833.1:p.Val516Met | |
| NM_001354905.1:c.1444G>A | NP_001341834.1:p.Val482Met | |
| NM_001354906.1:c.1075G>A | NP_001341835.1:p.Val359Met | |
| NM_000038.6:c.1924G>A MANE Select | NP_000029.2:p.Val642Met | |
| NM_001127510.3:c.1924G>A | NP_001120982.1:p.Val642Met | |
| NM_001127511.3:c.1870G>A | NP_001120983.2:p.Val624Met | |
| NM_001354895.2:c.1924G>A | NP_001341824.1:p.Val642Met | |
| NM_001354896.2:c.1978G>A | NP_001341825.1:p.Val660Met | |
| NM_001354897.2:c.1954G>A | NP_001341826.1:p.Val652Met | |
| NM_001354898.2:c.1849G>A | NP_001341827.1:p.Val617Met | |
| NM_001354899.2:c.1840G>A | NP_001341828.1:p.Val614Met | |
| NM_001354900.2:c.1801G>A | NP_001341829.1:p.Val601Met | |
| NM_001354901.2:c.1747G>A | NP_001341830.1:p.Val583Met | |
| NM_001354902.2:c.1651G>A | NP_001341831.1:p.Val551Met | |
| NM_001354903.2:c.1621G>A | NP_001341832.1:p.Val541Met | |
| NM_001354904.2:c.1546G>A | NP_001341833.1:p.Val516Met | |
| NM_001354905.2:c.1444G>A | NP_001341834.1:p.Val482Met | |
| NM_001354906.2:c.1075G>A | NP_001341835.1:p.Val359Met |