Linked Data
ClinVar Variation Id:
2907989
ClinVar RCV Id:
RCV003618984
dbSNP Id:
rs1457489949
gnomAD v2:
7-117232601-G-C
gnomAD v4:
7-117592547-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117592547G>C , CM000669.2:g.117592547G>C | GRCh38 |
| NC_000007.13:g.117232601G>C , CM000669.1:g.117232601G>C | GRCh37 |
| NC_000007.12:g.117019837G>C | NCBI36 |
| NG_016465.4:g.131764G>C , LRG_663:g.131764G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.2380G>C | ENSP00000497673.2:p.Val794Leu | |
| ENST00000647978.2:c.*2094G>C | ENSP00000497658.1:n.*2094G>C | |
| ENST00000649781.2:c.2197G>C | ENSP00000497203.1:p.Val733Leu | |
| ENST00000685018.2:c.2380G>C | ENSP00000510194.2:p.Val794Leu | |
| ENST00000687278.2:c.2380G>C | ENSP00000509593.2:p.Val794Leu | |
| ENST00000699585.1:c.2380G>C | ENSP00000514456.1:p.Val794Leu | |
| ENST00000699598.1:c.2380G>C | ENSP00000514467.1:p.Val794Leu | |
| ENST00000699599.1:c.2380G>C | ENSP00000514468.1:p.Val794Leu | |
| ENST00000699600.1:c.2380G>C | ENSP00000514469.1:p.Val794Leu | |
| ENST00000699601.1:c.*680G>C | ENSP00000514470.1:n.*680G>C | |
| ENST00000699602.1:c.2380G>C | ENSP00000514471.1:p.Val794Leu | |
| ENST00000699604.1:c.*2204G>C | ENSP00000514472.1:n.*2204G>C | |
| ENST00000699605.1:c.1954G>C | ENSP00000514473.1:p.Val652Leu | |
| ENST00000003084.11:c.2380G>C MANE Select | ENSP00000003084.6:p.Val794Leu | |
| ENST00000647720.1:c.30G>C | ||
| ENST00000647978.1:c.*2094G>C | ENSP00000497658.1:n.*2094G>C | |
| ENST00000648260.1:c.1402-10279G>C | ENSP00000497957.1:n.1402-10279G>C | |
| ENST00000649406.1:c.2197G>C | ENSP00000497965.1:p.Val733Leu | |
| ENST00000649781.1:c.2197G>C | ENSP00000497203.1:p.Val733Leu | |
| ENST00000003084.10:c.2380G>C | ENSP00000003084.6:p.Val794Leu | |
| ENST00000426809.5:c.2290G>C | ENSP00000389119.1:p.Val764Leu | |
| NM_000492.3:c.2380G>C , LRG_663t1:c.2380G>C | NP_000483.3:p.Val794Leu | |
| XM_011515751.1:c.2470G>C | XP_011514053.1:p.Val824Leu | |
| XM_011515752.1:c.2470G>C | XP_011514054.1:p.Val824Leu | |
| XM_011515753.1:c.2137G>C | XP_011514055.1:p.Val713Leu | |
| XM_011515754.1:c.2137G>C | XP_011514056.1:p.Val713Leu | |
| NM_000492.4:c.2380G>C MANE Select | NP_000483.3:p.Val794Leu |