Linked Data
ClinVar Variation Id:
1593061
ClinVar RCV Id:
RCV002112594
dbSNP Id:
rs1315084650
gnomAD v2:
7-150654361-C-T
gnomAD v3:
7-150957273-C-T
gnomAD v4:
7-150957273-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150957273C>T , CM000669.2:g.150957273C>T | GRCh38 |
| NC_000007.13:g.150654361C>T , CM000669.1:g.150654361C>T | GRCh37 |
| NC_000007.12:g.150285294C>T | NCBI36 |
| NG_008916.1:g.25654G>A , LRG_288:g.25654G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1961+18G>A | ||
| ENST00000262186.10:c.1128+18G>A MANE Select | ENSP00000262186.5:n.1128+18G>A | |
| ENST00000262186.9:c.1128+18G>A | ENSP00000262186.5:n.1128+18G>A | |
| ENST00000430723.4:c.780+18G>A | ENSP00000387657.4:n.780+18G>A | |
| ENST00000532957.5:n.1351+18G>A | ||
| NM_000238.3:c.1128+18G>A , LRG_288t1:c.1128+18G>A | NP_000229.1:n.1128+18G>A | |
| NM_172056.2:c.1128+18G>A , LRG_288t2:c.1128+18G>A | NP_742053.1:n.1128+18G>A | |
| XM_011516185.1:c.828+18G>A | XP_011514487.1:n.828+18G>A | |
| XM_011516186.1:c.1128+18G>A | XP_011514488.1:n.1128+18G>A | |
| XM_011516185.2:c.828+18G>A | XP_011514487.1:n.828+18G>A | |
| XM_011516186.3:c.1128+18G>A | XP_011514488.1:n.1128+18G>A | |
| XM_017012195.1:c.978+18G>A | XP_016867684.1:n.978+18G>A | |
| XM_017012196.1:c.951+18G>A | XP_016867685.1:n.951+18G>A | |
| NM_000238.4:c.1128+18G>A MANE Select | NP_000229.1:n.1128+18G>A |