Linked Data
ClinVar Variation Id:
705556
dbSNP Id:
rs774723481
ExAC:
11:61213462 G / C
gnomAD v2:
11-61213462-G-C
gnomAD v4:
11-61445990-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61445990G>C , CM000673.2:g.61445990G>C | GRCh38 |
| NC_000011.9:g.61213462G>C , CM000673.1:g.61213462G>C | GRCh37 |
| NC_000011.8:g.60970038G>C | NCBI36 |
| NG_023393.1:g.20866G>C , LRG_519:g.20866G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301761.7:c.420G>C MANE Select | ENSP00000301761.3:p.Leu140= | |
| ENST00000301761.6:c.420G>C | ENSP00000301761.2:p.Leu140= | |
| ENST00000359614.9:c.*128G>C | ENSP00000352630.5:n.*128G>C | |
| ENST00000536670.5:n.396+7877G>C | ||
| ENST00000537782.5:c.*66G>C | ENSP00000469951.1:n.*66G>C | |
| ENST00000538594.5:c.370+7877G>C | ENSP00000440939.1:n.370+7877G>C | |
| ENST00000541135.5:c.377+7870G>C | ENSP00000443130.1:n.377+7870G>C | |
| ENST00000542074.1:c.86G>C | ENSP00000469670.1:p.Ter29Ser | |
| ENST00000542794.5:c.*422G>C | ENSP00000439983.1:n.*422G>C | |
| ENST00000543044.2:c.384G>C | ENSP00000440219.1:p.Leu128= | |
| ENST00000543265.1:c.*43G>C | ENSP00000443660.1:n.*43G>C | |
| ENST00000544025.5:n.465+7877G>C | ||
| ENST00000544801.5:c.370+7877G>C | ENSP00000442581.1:n.370+7877G>C | |
| ENST00000544880.1:n.374+7877G>C | ||
| NM_017841.2:c.420G>C , LRG_519t1:c.420G>C | NP_060311.1:p.Leu140= | |
| NM_017841.4:c.420G>C MANE Select | NP_060311.1:p.Leu140= |