Linked Data
ClinVar Variation Id:
649990
ClinVar RCV Id:
RCV000805053
dbSNP Id:
rs199874116
gnomAD v4:
11-4091534-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.4091534G>C , CM000673.2:g.4091534G>C | GRCh38 |
| NC_000011.9:g.4112764G>C , CM000673.1:g.4112764G>C | GRCh37 |
| NC_000011.8:g.4069340G>C | NCBI36 |
| NG_016277.1:g.240832G>C , LRG_164:g.240832G>C | |
| NG_027992.2:g.1841G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525403.6:c.*208G>C | ENSP00000432210.2:n.*208G>C | |
| ENST00000698910.1:c.1305G>C | ENSP00000514024.1:p.Glu435Asp | |
| ENST00000698911.1:c.1890G>C | ENSP00000514025.1:p.Glu630Asp | |
| ENST00000698912.1:c.*208G>C | ENSP00000514026.1:n.*208G>C | |
| ENST00000698913.1:c.1572G>C | ENSP00000514027.1:p.Glu524Asp | |
| ENST00000698915.1:c.1878G>C | ENSP00000514029.1:p.Glu626Asp | |
| ENST00000698916.1:c.1815G>C | ENSP00000514030.1:p.Glu605Asp | |
| ENST00000698918.1:c.*1532G>C | ENSP00000514031.1:n.*1532G>C | |
| ENST00000698919.1:c.*727G>C | ENSP00000514032.1:n.*727G>C | |
| ENST00000698920.1:n.1094G>C | ||
| ENST00000526596.2:c.1887G>C MANE Select | ENSP00000433266.2:p.Glu629Asp | |
| ENST00000300737.8:c.1794G>C | ENSP00000300737.4:p.Glu598Asp | |
| ENST00000526156.1:n.592G>C | ||
| ENST00000526596.1:c.1079G>C | ||
| ENST00000527651.5:c.*208G>C | ENSP00000436208.1:n.*208G>C | |
| ENST00000533977.5:c.1275G>C | ENSP00000434767.1:p.Glu425Asp | |
| ENST00000616714.4:c.2112G>C | ENSP00000478059.1:p.Glu704Asp | |
| NM_001277961.1:c.2112G>C | NP_001264890.1:p.Glu704Asp | |
| NM_001277962.1:c.*208G>C | NP_001264891.1:n.*208G>C | |
| NM_003156.3:c.1794G>C , LRG_164t1:c.1794G>C | NP_003147.2:p.Glu598Asp | |
| NM_001277962.2:c.*208G>C | NP_001264891.1:n.*208G>C | |
| NM_001277961.3:c.2112G>C | NP_001264890.1:p.Glu704Asp | |
| NM_001382566.1:c.1890G>C | NP_001369495.1:p.Glu630Asp | |
| NM_001382567.1:c.1887G>C MANE Select | NP_001369496.1:p.Glu629Asp | |
| NM_001382568.1:c.1815G>C | NP_001369497.1:p.Glu605Asp | |
| NM_001382569.1:c.1659G>C | NP_001369498.1:p.Glu553Asp | |
| NM_001382570.1:c.1566G>C | NP_001369499.1:p.Glu522Asp | |
| NM_001382571.1:c.1314G>C | NP_001369500.1:p.Glu438Asp | |
| NM_001382575.1:c.1572G>C | NP_001369504.1:p.Glu524Asp | |
| NM_001382576.1:c.1572G>C | NP_001369505.1:p.Glu524Asp | |
| NM_001382577.1:c.1572G>C | NP_001369506.1:p.Glu524Asp | |
| NM_001382578.1:c.*208G>C | NP_001369507.1:n.*208G>C | |
| NM_001382579.1:c.*208G>C | NP_001369508.1:n.*208G>C | |
| NM_001382580.1:c.*208G>C | NP_001369509.1:n.*208G>C | |
| NM_001382581.1:c.1305G>C | NP_001369510.1:p.Glu435Asp | |
| NM_003156.4:c.1794G>C | NP_003147.2:p.Glu598Asp | |
| NR_168436.1:n.1718G>C | ||
| NR_168437.1:n.2223G>C | ||
| NR_168438.1:n.2045G>C |