Linked Data
ClinVar Variation Id:
417947
ClinVar RCV Id:
RCV000477873
dbSNP Id:
rs1060499612
gnomAD v3:
7-96208837-C-G
gnomAD v4:
7-96208837-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96208837C>G , CM000669.2:g.96208837C>G | GRCh38 |
| NC_000007.13:g.95838149C>G , CM000669.1:g.95838149C>G | GRCh37 |
| NC_000007.12:g.95676085C>G | NCBI36 |
| NG_012247.1:g.118311G>C | |
| NG_012247.2:g.118311G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265631.10:c.468+1G>C MANE Select | ENSP00000265631.6:n.468+1G>C | |
| ENST00000265631.9:c.468+1G>C | ENSP00000265631.5:n.468+1G>C | |
| ENST00000416240.6:c.468+1G>C | ENSP00000400101.2:n.468+1G>C | |
| ENST00000472162.2:c.*130+1G>C | ENSP00000473505.1:n.*130+1G>C | |
| NM_001160210.1:c.468+1G>C | NP_001153682.1:n.468+1G>C | |
| NM_014251.2:c.468+1G>C | NP_055066.1:n.468+1G>C | |
| NR_027662.1:n.543+1G>C | ||
| XM_006715831.2:c.501+1G>C | XP_006715894.1:n.501+1G>C | |
| XM_011515727.1:c.501+1G>C | XP_011514029.1:n.501+1G>C | |
| XM_006715831.4:c.501+1G>C | XP_006715894.1:n.501+1G>C | |
| XM_011515727.3:c.501+1G>C | XP_011514029.1:n.501+1G>C | |
| XM_017011663.1:c.459+1G>C | XP_016867152.1:n.459+1G>C | |
| XM_017011664.2:c.-291+1G>C | XP_016867153.1:n.-291+1G>C | |
| XM_017011665.1:c.-291+1G>C | XP_016867154.1:n.-291+1G>C | |
| XR_001744525.2:n.639+1G>C | ||
| XR_002956405.1:n.781+1G>C | ||
| NM_014251.3:c.468+1G>C MANE Select | NP_055066.1:n.468+1G>C | |
| NR_027662.2:n.494+1G>C | ||
| NM_001160210.2:c.468+1G>C | NP_001153682.1:n.468+1G>C |