Linked Data
ClinVar Variation Id:
430555
dbSNP Id:
rs762299647
gnomAD v2:
8-12950146-G-C
gnomAD v3:
8-13092637-G-C
gnomAD v4:
8-13092637-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.13092637G>C , CM000670.2:g.13092637G>C | GRCh38 |
| NC_000008.10:g.12950146G>C , CM000670.1:g.12950146G>C | GRCh37 |
| NC_000008.9:g.12994517G>C | NCBI36 |
| NG_015998.1:g.427284C>G | |
| NG_015998.2:g.516969C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276297.9:c.3715C>G MANE Select | ENSP00000276297.4:p.Leu1239Val | |
| ENST00000276297.8:c.3715C>G | ENSP00000276297.4:p.Leu1239Val | |
| ENST00000358919.6:c.2404C>G | ENSP00000351797.2:p.Leu802Val | |
| ENST00000510318.5:n.900C>G | ||
| ENST00000512044.6:c.2506C>G | ENSP00000422595.2:p.Leu836Val | |
| ENST00000520226.5:c.2182C>G | ENSP00000428028.1:p.Leu728Val | |
| NM_001164271.1:c.2182C>G | NP_001157743.1:p.Leu728Val | |
| NM_001316668.1:c.2506C>G | NP_001303597.1:p.Leu836Val | |
| NM_006094.4:c.2404C>G | NP_006085.2:p.Leu802Val | |
| NM_182643.2:c.3715C>G | NP_872584.2:p.Leu1239Val | |
| XM_005273374.1:c.3715C>G | XP_005273431.1:p.Leu1239Val | |
| NM_001348081.1:c.3715C>G | NP_001335010.1:p.Leu1239Val | |
| NM_001348082.1:c.2182C>G | NP_001335011.1:p.Leu728Val | |
| NM_001348083.1:c.2182C>G | NP_001335012.1:p.Leu728Val | |
| NM_001348084.1:c.2182C>G | NP_001335013.1:p.Leu728Val | |
| NM_182643.3:c.3715C>G MANE Select | NP_872584.2:p.Leu1239Val | |
| NM_001316668.2:c.2506C>G | NP_001303597.1:p.Leu836Val | |
| NM_001348081.2:c.3715C>G | NP_001335010.1:p.Leu1239Val | |
| NM_001348082.2:c.2182C>G | NP_001335011.1:p.Leu728Val | |
| NM_001348084.2:c.2182C>G | NP_001335013.1:p.Leu728Val | |
| NM_006094.5:c.2404C>G | NP_006085.2:p.Leu802Val | |
| NM_001164271.2:c.2182C>G | NP_001157743.1:p.Leu728Val |