Linked Data
dbSNP Id:
rs2094525435
gnomAD v3:
11-4091567-A-G
gnomAD v4:
11-4091567-A-G
MyVariant Identifiers:
chr11:g.4112797A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.4091567A>G , CM000673.2:g.4091567A>G | GRCh38 |
| NC_000011.9:g.4112797A>G , CM000673.1:g.4112797A>G | GRCh37 |
| NC_000011.8:g.4069373A>G | NCBI36 |
| NG_016277.1:g.240865A>G , LRG_164:g.240865A>G | |
| NG_027992.2:g.1874A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525403.6:c.*241A>G | ENSP00000432210.2:n.*241A>G | |
| ENST00000698910.1:c.1338A>G | ENSP00000514024.1:p.Pro446= | |
| ENST00000698911.1:c.1923A>G | ENSP00000514025.1:p.Pro641= | |
| ENST00000698912.1:c.*241A>G | ENSP00000514026.1:n.*241A>G | |
| ENST00000698913.1:c.1605A>G | ENSP00000514027.1:p.Pro535= | |
| ENST00000698915.1:c.1911A>G | ENSP00000514029.1:p.Pro637= | |
| ENST00000698916.1:c.1848A>G | ENSP00000514030.1:p.Pro616= | |
| ENST00000698918.1:c.*1565A>G | ENSP00000514031.1:n.*1565A>G | |
| ENST00000698919.1:c.*760A>G | ENSP00000514032.1:n.*760A>G | |
| ENST00000698920.1:n.1127A>G | ||
| ENST00000526596.2:c.1920A>G MANE Select | ENSP00000433266.2:p.Pro640= | |
| ENST00000300737.8:c.1827A>G | ENSP00000300737.4:p.Pro609= | |
| ENST00000526156.1:n.625A>G | ||
| ENST00000526596.1:c.1112A>G | ||
| ENST00000527651.5:c.*241A>G | ENSP00000436208.1:n.*241A>G | |
| ENST00000533977.5:c.1308A>G | ENSP00000434767.1:p.Pro436= | |
| ENST00000616714.4:c.2145A>G | ENSP00000478059.1:p.Pro715= | |
| NM_001277961.1:c.2145A>G | NP_001264890.1:p.Pro715= | |
| NM_001277962.1:c.*241A>G | NP_001264891.1:n.*241A>G | |
| NM_003156.3:c.1827A>G , LRG_164t1:c.1827A>G | NP_003147.2:p.Pro609= | |
| NM_001277962.2:c.*241A>G | NP_001264891.1:n.*241A>G | |
| NM_001277961.3:c.2145A>G | NP_001264890.1:p.Pro715= | |
| NM_001382566.1:c.1923A>G | NP_001369495.1:p.Pro641= | |
| NM_001382567.1:c.1920A>G MANE Select | NP_001369496.1:p.Pro640= | |
| NM_001382568.1:c.1848A>G | NP_001369497.1:p.Pro616= | |
| NM_001382569.1:c.1692A>G | NP_001369498.1:p.Pro564= | |
| NM_001382570.1:c.1599A>G | NP_001369499.1:p.Pro533= | |
| NM_001382571.1:c.1347A>G | NP_001369500.1:p.Pro449= | |
| NM_001382575.1:c.1605A>G | NP_001369504.1:p.Pro535= | |
| NM_001382576.1:c.1605A>G | NP_001369505.1:p.Pro535= | |
| NM_001382577.1:c.1605A>G | NP_001369506.1:p.Pro535= | |
| NM_001382578.1:c.*241A>G | NP_001369507.1:n.*241A>G | |
| NM_001382579.1:c.*241A>G | NP_001369508.1:n.*241A>G | |
| NM_001382580.1:c.*241A>G | NP_001369509.1:n.*241A>G | |
| NM_001382581.1:c.1338A>G | NP_001369510.1:p.Pro446= | |
| NM_003156.4:c.1827A>G | NP_003147.2:p.Pro609= | |
| NR_168436.1:n.1751A>G | ||
| NR_168437.1:n.2256A>G | ||
| NR_168438.1:n.2078A>G |