Linked Data
ClinVar Variation Id:
433304
dbSNP Id:
rs72657695
gnomAD v2:
16-16259598-A-C
gnomAD v3:
16-16165741-A-C
gnomAD v4:
16-16165741-A-C
PubMed:
PMID:16835894
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16165741A>C , CM000678.2:g.16165741A>C | GRCh38 |
| NC_000016.9:g.16259598A>C , CM000678.1:g.16259598A>C | GRCh37 |
| NC_000016.8:g.16167099A>C | NCBI36 |
| NG_007558.2:g.62731T>G | |
| NG_007558.3:g.62877T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.3188T>G | ENSP00000483331.2:p.Leu1063Arg | |
| ENST00000205557.12:c.3188T>G MANE Select | ENSP00000205557.7:p.Leu1063Arg | |
| ENST00000640696.1:c.203T>G | ENSP00000492197.1:p.Leu68Arg | |
| ENST00000205557.11:c.3188T>G | ENSP00000205557.7:p.Leu1063Arg | |
| ENST00000456970.6:c.3013T>G | ENSP00000405002.2:n.3013T>G | |
| ENST00000622290.4:c.*397T>G | ENSP00000483331.1:n.*397T>G | |
| NM_001171.5:c.3188T>G | NP_001162.4:p.Leu1063Arg | |
| XM_011522479.1:c.3155T>G | XP_011520781.1:p.Leu1052Arg | |
| XM_011522480.1:c.2846T>G | XP_011520782.1:p.Leu949Arg | |
| XM_011522481.1:c.2846T>G | XP_011520783.1:p.Leu949Arg | |
| XR_932836.1:n.3423T>G | ||
| XR_932837.1:n.3424T>G | ||
| XR_932838.1:n.3424T>G | ||
| NM_001351800.1:c.2846T>G | NP_001338729.1:p.Leu949Arg | |
| NR_147784.1:n.3050T>G | ||
| XM_011522479.2:c.3155T>G | XP_011520781.1:p.Leu1052Arg | |
| XM_011522481.3:c.2846T>G | XP_011520783.1:p.Leu949Arg | |
| XM_017023212.1:c.3020T>G | XP_016878701.1:p.Leu1007Arg | |
| XM_017023214.1:c.3188T>G | XP_016878703.1:p.Leu1063Arg | |
| XM_024450261.1:c.3224T>G | XP_024306029.1:p.Leu1075Arg | |
| XR_932836.2:n.3369T>G | ||
| XR_932837.3:n.3369T>G | ||
| XR_932838.3:n.3369T>G | ||
| NM_001171.6:c.3188T>G MANE Select | NP_001162.5:p.Leu1063Arg |