Linked Data
ClinVar Variation Id:
428132
dbSNP Id:
rs1114167575
gnomAD v4:
5-112835125-C-T
COSMIC:
COSM201296
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112835125C>T , CM000667.2:g.112835125C>T | GRCh38 |
| NC_000005.9:g.112170822C>T , CM000667.1:g.112170822C>T | GRCh37 |
| NC_000005.8:g.112198721C>T | NCBI36 |
| NG_008481.4:g.147605C>T , LRG_130:g.147605C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1583C>T | ENSP00000484935.2:n.1583C>T | |
| ENST00000504915.3:c.1972C>T | ENSP00000473355.2:p.Arg658Trp | |
| ENST00000505350.2:c.*1924C>T | ENSP00000481752.1:n.*1924C>T | |
| ENST00000507379.6:c.1864C>T | ENSP00000423224.2:p.Arg622Trp | |
| ENST00000509732.6:c.1918C>T | ENSP00000426541.2:p.Arg640Trp | |
| ENST00000512211.7:c.1918C>T | ENSP00000423828.3:p.Arg640Trp | |
| ENST00000257430.9:c.1918C>T MANE Select | ENSP00000257430.4:p.Arg640Trp | |
| ENST00000257430.8:c.1918C>T | ENSP00000257430.4:p.Arg640Trp | |
| ENST00000502371.2:c.271C>T | ||
| ENST00000504915.2:c.607C>T | ENSP00000473355.1:p.Arg203Trp | |
| ENST00000507379.5:c.1864C>T | ENSP00000423224.1:p.Arg622Trp | |
| ENST00000508376.6:c.1918C>T | ENSP00000427089.2:p.Arg640Trp | |
| ENST00000508624.5:c.*1240C>T | ENSP00000424265.1:n.*1240C>T | |
| ENST00000512211.6:c.1918C>T | ENSP00000423828.2:p.Arg640Trp | |
| ENST00000520401.1:c.230+6153C>T | ||
| NM_000038.5:c.1918C>T | NP_000029.2:p.Arg640Trp | |
| NM_001127510.2:c.1918C>T | NP_001120982.1:p.Arg640Trp | |
| NM_001127511.2:c.1864C>T | NP_001120983.2:p.Arg622Trp | |
| NM_001354895.1:c.1918C>T | NP_001341824.1:p.Arg640Trp | |
| NM_001354896.1:c.1972C>T | NP_001341825.1:p.Arg658Trp | |
| NM_001354897.1:c.1948C>T | NP_001341826.1:p.Arg650Trp | |
| NM_001354898.1:c.1843C>T | NP_001341827.1:p.Arg615Trp | |
| NM_001354899.1:c.1834C>T | NP_001341828.1:p.Arg612Trp | |
| NM_001354900.1:c.1795C>T | NP_001341829.1:p.Arg599Trp | |
| NM_001354901.1:c.1741C>T | NP_001341830.1:p.Arg581Trp | |
| NM_001354902.1:c.1645C>T | NP_001341831.1:p.Arg549Trp | |
| NM_001354903.1:c.1615C>T | NP_001341832.1:p.Arg539Trp | |
| NM_001354904.1:c.1540C>T | NP_001341833.1:p.Arg514Trp | |
| NM_001354905.1:c.1438C>T | NP_001341834.1:p.Arg480Trp | |
| NM_001354906.1:c.1069C>T | NP_001341835.1:p.Arg357Trp | |
| NM_000038.6:c.1918C>T MANE Select | NP_000029.2:p.Arg640Trp | |
| NM_001127510.3:c.1918C>T | NP_001120982.1:p.Arg640Trp | |
| NM_001127511.3:c.1864C>T | NP_001120983.2:p.Arg622Trp | |
| NM_001354895.2:c.1918C>T | NP_001341824.1:p.Arg640Trp | |
| NM_001354896.2:c.1972C>T | NP_001341825.1:p.Arg658Trp | |
| NM_001354897.2:c.1948C>T | NP_001341826.1:p.Arg650Trp | |
| NM_001354898.2:c.1843C>T | NP_001341827.1:p.Arg615Trp | |
| NM_001354899.2:c.1834C>T | NP_001341828.1:p.Arg612Trp | |
| NM_001354900.2:c.1795C>T | NP_001341829.1:p.Arg599Trp | |
| NM_001354901.2:c.1741C>T | NP_001341830.1:p.Arg581Trp | |
| NM_001354902.2:c.1645C>T | NP_001341831.1:p.Arg549Trp | |
| NM_001354903.2:c.1615C>T | NP_001341832.1:p.Arg539Trp | |
| NM_001354904.2:c.1540C>T | NP_001341833.1:p.Arg514Trp | |
| NM_001354905.2:c.1438C>T | NP_001341834.1:p.Arg480Trp | |
| NM_001354906.2:c.1069C>T | NP_001341835.1:p.Arg357Trp |