Linked Data
ClinVar Variation Id:
2740506
ClinVar RCV Id:
RCV003506750
dbSNP Id:
rs1399214727
gnomAD v2:
7-117242928-C-T
gnomAD v4:
7-117602874-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117602874C>T , CM000669.2:g.117602874C>T | GRCh38 |
| NC_000007.13:g.117242928C>T , CM000669.1:g.117242928C>T | GRCh37 |
| NC_000007.12:g.117030164C>T | NCBI36 |
| NG_016465.4:g.142091C>T , LRG_663:g.142091C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.2657+11C>T | ENSP00000497673.2:n.2657+11C>T | |
| ENST00000647978.2:c.*2371+11C>T | ENSP00000497658.1:n.*2371+11C>T | |
| ENST00000649781.2:c.2474+11C>T | ENSP00000497203.1:n.2474+11C>T | |
| ENST00000685018.2:c.2657+11C>T | ENSP00000510194.2:n.2657+11C>T | |
| ENST00000687278.2:c.2657+11C>T | ENSP00000509593.2:n.2657+11C>T | |
| ENST00000699585.1:c.2657+11C>T | ENSP00000514456.1:n.2657+11C>T | |
| ENST00000699598.1:c.2657+11C>T | ENSP00000514467.1:n.2657+11C>T | |
| ENST00000699599.1:c.2657+11C>T | ENSP00000514468.1:n.2657+11C>T | |
| ENST00000699600.1:c.2657+11C>T | ENSP00000514469.1:n.2657+11C>T | |
| ENST00000699601.1:c.*957+11C>T | ENSP00000514470.1:n.*957+11C>T | |
| ENST00000699602.1:c.2657+11C>T | ENSP00000514471.1:n.2657+11C>T | |
| ENST00000699604.1:c.*2481+11C>T | ENSP00000514472.1:n.*2481+11C>T | |
| ENST00000699605.1:c.2231+11C>T | ENSP00000514473.1:n.2231+11C>T | |
| ENST00000687278.1:c.248+11C>T | ENSP00000509593.1:n.248+11C>T | |
| ENST00000003084.11:c.2657+11C>T MANE Select | ENSP00000003084.6:n.2657+11C>T | |
| ENST00000647720.1:c.307+11C>T | ||
| ENST00000648260.1:c.1439+11C>T | ENSP00000497957.1:n.1439+11C>T | |
| ENST00000649406.1:c.2474+11C>T | ENSP00000497965.1:n.2474+11C>T | |
| ENST00000649781.1:c.2474+11C>T | ENSP00000497203.1:n.2474+11C>T | |
| ENST00000003084.10:c.2657+11C>T | ENSP00000003084.6:n.2657+11C>T | |
| ENST00000426809.5:c.2567+11C>T | ENSP00000389119.1:n.2567+11C>T | |
| NM_000492.3:c.2657+11C>T , LRG_663t1:c.2657+11C>T | NP_000483.3:n.2657+11C>T | |
| XM_011515751.1:c.2747+11C>T | XP_011514053.1:n.2747+11C>T | |
| XM_011515752.1:c.2747+11C>T | XP_011514054.1:n.2747+11C>T | |
| XM_011515753.1:c.2414+11C>T | XP_011514055.1:n.2414+11C>T | |
| XM_011515754.1:c.2414+11C>T | XP_011514056.1:n.2414+11C>T | |
| NM_000492.4:c.2657+11C>T MANE Select | NP_000483.3:n.2657+11C>T |