Linked Data
dbSNP Id:
rs1407116817
gnomAD v2:
11-4112738-C-T
gnomAD v3:
11-4091508-C-T
gnomAD v4:
11-4091508-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.4091508C>T , CM000673.2:g.4091508C>T | GRCh38 |
| NC_000011.9:g.4112738C>T , CM000673.1:g.4112738C>T | GRCh37 |
| NC_000011.8:g.4069314C>T | NCBI36 |
| NG_016277.1:g.240806C>T , LRG_164:g.240806C>T | |
| NG_027992.2:g.1815C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525403.6:c.*182C>T | ENSP00000432210.2:n.*182C>T | |
| ENST00000698910.1:c.1279C>T | ENSP00000514024.1:p.Leu427= | |
| ENST00000698911.1:c.1864C>T | ENSP00000514025.1:p.Leu622= | |
| ENST00000698912.1:c.*182C>T | ENSP00000514026.1:n.*182C>T | |
| ENST00000698913.1:c.1546C>T | ENSP00000514027.1:p.Leu516= | |
| ENST00000698915.1:c.1852C>T | ENSP00000514029.1:p.Leu618= | |
| ENST00000698916.1:c.1789C>T | ENSP00000514030.1:p.Leu597= | |
| ENST00000698918.1:c.*1506C>T | ENSP00000514031.1:n.*1506C>T | |
| ENST00000698919.1:c.*701C>T | ENSP00000514032.1:n.*701C>T | |
| ENST00000698920.1:n.1068C>T | ||
| ENST00000526596.2:c.1861C>T MANE Select | ENSP00000433266.2:p.Leu621= | |
| ENST00000300737.8:c.1768C>T | ENSP00000300737.4:p.Leu590= | |
| ENST00000526156.1:n.566C>T | ||
| ENST00000526596.1:c.1053C>T | ||
| ENST00000527651.5:c.*182C>T | ENSP00000436208.1:n.*182C>T | |
| ENST00000533977.5:c.1249C>T | ENSP00000434767.1:p.Leu417= | |
| ENST00000616714.4:c.2086C>T | ENSP00000478059.1:p.Leu696= | |
| NM_001277961.1:c.2086C>T | NP_001264890.1:p.Leu696= | |
| NM_001277962.1:c.*182C>T | NP_001264891.1:n.*182C>T | |
| NM_003156.3:c.1768C>T , LRG_164t1:c.1768C>T | NP_003147.2:p.Leu590= | |
| NM_001277962.2:c.*182C>T | NP_001264891.1:n.*182C>T | |
| NM_001277961.3:c.2086C>T | NP_001264890.1:p.Leu696= | |
| NM_001382566.1:c.1864C>T | NP_001369495.1:p.Leu622= | |
| NM_001382567.1:c.1861C>T MANE Select | NP_001369496.1:p.Leu621= | |
| NM_001382568.1:c.1789C>T | NP_001369497.1:p.Leu597= | |
| NM_001382569.1:c.1633C>T | NP_001369498.1:p.Leu545= | |
| NM_001382570.1:c.1540C>T | NP_001369499.1:p.Leu514= | |
| NM_001382571.1:c.1288C>T | NP_001369500.1:p.Leu430= | |
| NM_001382575.1:c.1546C>T | NP_001369504.1:p.Leu516= | |
| NM_001382576.1:c.1546C>T | NP_001369505.1:p.Leu516= | |
| NM_001382577.1:c.1546C>T | NP_001369506.1:p.Leu516= | |
| NM_001382578.1:c.*182C>T | NP_001369507.1:n.*182C>T | |
| NM_001382579.1:c.*182C>T | NP_001369508.1:n.*182C>T | |
| NM_001382580.1:c.*182C>T | NP_001369509.1:n.*182C>T | |
| NM_001382581.1:c.1279C>T | NP_001369510.1:p.Leu427= | |
| NM_003156.4:c.1768C>T | NP_003147.2:p.Leu590= | |
| NR_168436.1:n.1692C>T | ||
| NR_168437.1:n.2197C>T | ||
| NR_168438.1:n.2019C>T |