Linked Data
ClinVar Variation Id:
370155
ClinVar RCV Id:
RCV000411114
dbSNP Id:
rs672601314
gnomAD v4:
7-117652932-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117652932G>C , CM000669.2:g.117652932G>C | GRCh38 |
| NC_000007.13:g.117292986G>C , CM000669.1:g.117292986G>C | GRCh37 |
| NC_000007.12:g.117080222G>C | NCBI36 |
| NG_016465.4:g.192149G>C , LRG_663:g.192149G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.*172+1G>C | ENSP00000497673.2:n.*172+1G>C | |
| ENST00000647978.2:c.*3677+1G>C | ENSP00000497658.1:n.*3677+1G>C | |
| ENST00000649781.2:c.3780+1G>C | ENSP00000497203.1:n.3780+1G>C | |
| ENST00000685018.2:c.*176+1G>C | ENSP00000510194.2:n.*176+1G>C | |
| ENST00000687278.2:c.*616+1G>C | ENSP00000509593.2:n.*616+1G>C | |
| ENST00000699585.1:c.*172+1G>C | ENSP00000514456.1:n.*172+1G>C | |
| ENST00000699598.1:c.3963+1G>C | ENSP00000514467.1:n.3963+1G>C | |
| ENST00000699599.1:c.*176+1G>C | ENSP00000514468.1:n.*176+1G>C | |
| ENST00000699600.1:c.*624+1G>C | ENSP00000514469.1:n.*624+1G>C | |
| ENST00000699601.1:c.*2338+1G>C | ENSP00000514470.1:n.*2338+1G>C | |
| ENST00000699602.1:c.3957+1G>C | ENSP00000514471.1:n.3957+1G>C | |
| ENST00000699604.1:c.*3787+1G>C | ENSP00000514472.1:n.*3787+1G>C | |
| ENST00000699605.1:c.3537+1G>C | ENSP00000514473.1:n.3537+1G>C | |
| ENST00000699606.1:n.2131+1G>C | ||
| ENST00000685018.1:c.827+1G>C | ENSP00000510194.1:n.827+1G>C | |
| ENST00000687278.1:c.1750+1G>C | ENSP00000509593.1:n.1750+1G>C | |
| ENST00000689011.1:c.545+1G>C | ||
| ENST00000003084.11:c.3963+1G>C MANE Select | ENSP00000003084.6:n.3963+1G>C | |
| ENST00000647720.1:c.1413+1G>C | ||
| ENST00000649781.1:c.3780+1G>C | ENSP00000497203.1:n.3780+1G>C | |
| ENST00000003084.10:c.3963+1G>C | ENSP00000003084.6:n.3963+1G>C | |
| ENST00000426809.5:c.3873+1G>C | ENSP00000389119.1:n.3873+1G>C | |
| ENST00000600166.1:c.89+1G>C | ||
| NM_000492.3:c.3963+1G>C , LRG_663t1:c.3963+1G>C | NP_000483.3:n.3963+1G>C | |
| XM_011515751.1:c.4053+1G>C | XP_011514053.1:n.4053+1G>C | |
| XM_011515752.1:c.4053+1G>C | XP_011514054.1:n.4053+1G>C | |
| XM_011515753.1:c.3720+1G>C | XP_011514055.1:n.3720+1G>C | |
| XM_011515754.1:c.3720+1G>C | XP_011514056.1:n.3720+1G>C | |
| NM_000492.4:c.3963+1G>C MANE Select | NP_000483.3:n.3963+1G>C |