Linked Data
ClinVar Variation Id:
424552
dbSNP Id:
rs758387062
ExAC:
2:74592661 G / C
gnomAD v2:
2-74592661-G-C
gnomAD v3:
2-74365534-G-C
gnomAD v4:
2-74365534-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74365534G>C , CM000664.2:g.74365534G>C | GRCh38 |
| NC_000002.11:g.74592661G>C , CM000664.1:g.74592661G>C | GRCh37 |
| NC_000002.10:g.74446169G>C | NCBI36 |
| NG_008735.2:g.31554C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361874.8:c.3010C>G | ENSP00000354791.4:p.Leu1004Val | |
| ENST00000628224.3:c.3010C>G MANE Select | ENSP00000487279.2:p.Leu1004Val | |
| ENST00000680606.1:c.2959C>G | ENSP00000505612.1:p.Leu987Val | |
| ENST00000361874.7:c.3010C>G | ENSP00000354791.3:p.Leu1004Val | |
| ENST00000394003.7:c.2989C>G | ENSP00000377571.3:p.Leu997Val | |
| ENST00000409240.5:c.2899C>G | ENSP00000386406.1:p.Leu967Val | |
| ENST00000409438.5:c.2608C>G | ENSP00000387270.1:p.Leu870Val | |
| ENST00000409567.7:c.2950C>G | ENSP00000386843.3:p.Leu984Val | |
| ENST00000409868.5:c.2959C>G | ENSP00000387327.1:p.Leu987Val | |
| ENST00000434055.5:c.*309C>G | ENSP00000416711.1:n.*309C>G | |
| ENST00000466110.5:n.3989C>G | ||
| ENST00000495895.1:n.426C>G | ||
| ENST00000497666.1:n.96+3766C>G | ||
| ENST00000628224.2:c.2959C>G | ENSP00000487279.1:p.Leu987Val | |
| ENST00000633691.1:c.2608C>G | ENSP00000487724.1:p.Leu870Val | |
| NM_001135040.2:c.2950C>G | NP_001128512.1:p.Leu984Val | |
| NM_001135041.2:c.2608C>G | NP_001128513.1:p.Leu870Val | |
| NM_001190836.1:c.2899C>G | NP_001177765.1:p.Leu967Val | |
| NM_001190837.1:c.2989C>G | NP_001177766.1:p.Leu997Val | |
| NM_004082.4:c.3010C>G | NP_004073.2:p.Leu1004Val | |
| NM_023019.3:c.2608C>G | NP_075408.1:p.Leu870Val | |
| NR_033935.1:n.3294C>G | ||
| NM_001135040.3:c.2950C>G | NP_001128512.1:p.Leu984Val | |
| NM_001135041.3:c.2608C>G | NP_001128513.1:p.Leu870Val | |
| NM_001190836.2:c.2899C>G | NP_001177765.1:p.Leu967Val | |
| NM_001190837.2:c.2989C>G | NP_001177766.1:p.Leu997Val | |
| NM_001378991.1:c.2959C>G | NP_001365920.1:p.Leu987Val | |
| NM_001378992.1:c.2941C>G | NP_001365921.1:p.Leu981Val | |
| NM_004082.5:c.3010C>G MANE Select | NP_004073.2:p.Leu1004Val | |
| NM_023019.4:c.2608C>G | NP_075408.1:p.Leu870Val | |
| NR_033935.2:n.3073C>G |