Linked Data
ClinVar Variation Id:
53678
ClinVar RCV Id:
RCV000577722
dbSNP Id:
rs121909019
PubMed:
PMID:15502086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117611638G>T , CM000669.2:g.117611638G>T | GRCh38 |
| NC_000007.13:g.117251692G>T , CM000669.1:g.117251692G>T | GRCh37 |
| NC_000007.12:g.117038928G>T | NCBI36 |
| NG_016465.4:g.150855G>T , LRG_663:g.150855G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.3197G>T | ENSP00000497673.2:p.Arg1066Leu | |
| ENST00000647978.2:c.*2911G>T | ENSP00000497658.1:n.*2911G>T | |
| ENST00000649781.2:c.3014G>T | ENSP00000497203.1:p.Arg1005Leu | |
| ENST00000685018.2:c.3197G>T | ENSP00000510194.2:p.Arg1066Leu | |
| ENST00000687278.2:c.3197G>T | ENSP00000509593.2:p.Arg1066Leu | |
| ENST00000699585.1:c.3197G>T | ENSP00000514456.1:p.Arg1066Leu | |
| ENST00000699598.1:c.3197G>T | ENSP00000514467.1:p.Arg1066Leu | |
| ENST00000699599.1:c.3197G>T | ENSP00000514468.1:p.Arg1066Leu | |
| ENST00000699600.1:c.3197G>T | ENSP00000514469.1:p.Arg1066Leu | |
| ENST00000699601.1:c.*1497G>T | ENSP00000514470.1:n.*1497G>T | |
| ENST00000699602.1:c.3197G>T | ENSP00000514471.1:p.Arg1066Leu | |
| ENST00000699604.1:c.*3021G>T | ENSP00000514472.1:n.*3021G>T | |
| ENST00000699605.1:c.2771G>T | ENSP00000514473.1:p.Arg924Leu | |
| ENST00000687278.1:c.788G>T | ENSP00000509593.1:p.Arg263Leu | |
| ENST00000003084.11:c.3197G>T MANE Select | ENSP00000003084.6:p.Arg1066Leu | |
| ENST00000647720.1:c.847G>T | ||
| ENST00000648260.1:c.1979G>T | ENSP00000497957.1:p.Arg660Leu | |
| ENST00000649406.1:c.3014G>T | ENSP00000497965.1:p.Arg1005Leu | |
| ENST00000649781.1:c.3014G>T | ENSP00000497203.1:p.Arg1005Leu | |
| ENST00000003084.10:c.3197G>T | ENSP00000003084.6:p.Arg1066Leu | |
| ENST00000426809.5:c.3107G>T | ENSP00000389119.1:p.Arg1036Leu | |
| ENST00000468795.1:c.22G>T | ||
| NM_000492.3:c.3197G>T , LRG_663t1:c.3197G>T | NP_000483.3:p.Arg1066Leu | |
| XM_011515751.1:c.3287G>T | XP_011514053.1:p.Arg1096Leu | |
| XM_011515752.1:c.3287G>T | XP_011514054.1:p.Arg1096Leu | |
| XM_011515753.1:c.2954G>T | XP_011514055.1:p.Arg985Leu | |
| XM_011515754.1:c.2954G>T | XP_011514056.1:p.Arg985Leu | |
| NM_000492.4:c.3197G>T MANE Select | NP_000483.3:p.Arg1066Leu |