Linked Data
ClinVar Variation Id:
2937549
ClinVar RCV Id:
RCV003794179
dbSNP Id:
rs1487138224
gnomAD v2:
11-4112756-C-T
gnomAD v3:
11-4091526-C-T
gnomAD v4:
11-4091526-C-T
COSMIC:
COSM3447251
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.4091526C>T , CM000673.2:g.4091526C>T | GRCh38 |
| NC_000011.9:g.4112756C>T , CM000673.1:g.4112756C>T | GRCh37 |
| NC_000011.8:g.4069332C>T | NCBI36 |
| NG_016277.1:g.240824C>T , LRG_164:g.240824C>T | |
| NG_027992.2:g.1833C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525403.6:c.*200C>T | ENSP00000432210.2:n.*200C>T | |
| ENST00000698910.1:c.1297C>T | ENSP00000514024.1:p.Leu433= | |
| ENST00000698911.1:c.1882C>T | ENSP00000514025.1:p.Leu628= | |
| ENST00000698912.1:c.*200C>T | ENSP00000514026.1:n.*200C>T | |
| ENST00000698913.1:c.1564C>T | ENSP00000514027.1:p.Leu522= | |
| ENST00000698915.1:c.1870C>T | ENSP00000514029.1:p.Leu624= | |
| ENST00000698916.1:c.1807C>T | ENSP00000514030.1:p.Leu603= | |
| ENST00000698918.1:c.*1524C>T | ENSP00000514031.1:n.*1524C>T | |
| ENST00000698919.1:c.*719C>T | ENSP00000514032.1:n.*719C>T | |
| ENST00000698920.1:n.1086C>T | ||
| ENST00000526596.2:c.1879C>T MANE Select | ENSP00000433266.2:p.Leu627= | |
| ENST00000300737.8:c.1786C>T | ENSP00000300737.4:p.Leu596= | |
| ENST00000526156.1:n.584C>T | ||
| ENST00000526596.1:c.1071C>T | ||
| ENST00000527651.5:c.*200C>T | ENSP00000436208.1:n.*200C>T | |
| ENST00000533977.5:c.1267C>T | ENSP00000434767.1:p.Leu423= | |
| ENST00000616714.4:c.2104C>T | ENSP00000478059.1:p.Leu702= | |
| NM_001277961.1:c.2104C>T | NP_001264890.1:p.Leu702= | |
| NM_001277962.1:c.*200C>T | NP_001264891.1:n.*200C>T | |
| NM_003156.3:c.1786C>T , LRG_164t1:c.1786C>T | NP_003147.2:p.Leu596= | |
| NM_001277962.2:c.*200C>T | NP_001264891.1:n.*200C>T | |
| NM_001277961.3:c.2104C>T | NP_001264890.1:p.Leu702= | |
| NM_001382566.1:c.1882C>T | NP_001369495.1:p.Leu628= | |
| NM_001382567.1:c.1879C>T MANE Select | NP_001369496.1:p.Leu627= | |
| NM_001382568.1:c.1807C>T | NP_001369497.1:p.Leu603= | |
| NM_001382569.1:c.1651C>T | NP_001369498.1:p.Leu551= | |
| NM_001382570.1:c.1558C>T | NP_001369499.1:p.Leu520= | |
| NM_001382571.1:c.1306C>T | NP_001369500.1:p.Leu436= | |
| NM_001382575.1:c.1564C>T | NP_001369504.1:p.Leu522= | |
| NM_001382576.1:c.1564C>T | NP_001369505.1:p.Leu522= | |
| NM_001382577.1:c.1564C>T | NP_001369506.1:p.Leu522= | |
| NM_001382578.1:c.*200C>T | NP_001369507.1:n.*200C>T | |
| NM_001382579.1:c.*200C>T | NP_001369508.1:n.*200C>T | |
| NM_001382580.1:c.*200C>T | NP_001369509.1:n.*200C>T | |
| NM_001382581.1:c.1297C>T | NP_001369510.1:p.Leu433= | |
| NM_003156.4:c.1786C>T | NP_003147.2:p.Leu596= | |
| NR_168436.1:n.1710C>T | ||
| NR_168437.1:n.2215C>T | ||
| NR_168438.1:n.2037C>T |