Linked Data
ClinVar Variation Id:
2817846
ClinVar RCV Id:
RCV003648229
dbSNP Id:
rs576438427
gnomAD v4:
7-150957278-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150957278G>T , CM000669.2:g.150957278G>T | GRCh38 |
| NC_000007.13:g.150654366G>T , CM000669.1:g.150654366G>T | GRCh37 |
| NC_000007.12:g.150285299G>T | NCBI36 |
| NG_008916.1:g.25649C>A , LRG_288:g.25649C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1961+13C>A | ||
| ENST00000262186.10:c.1128+13C>A MANE Select | ENSP00000262186.5:n.1128+13C>A | |
| ENST00000262186.9:c.1128+13C>A | ENSP00000262186.5:n.1128+13C>A | |
| ENST00000430723.4:c.780+13C>A | ENSP00000387657.4:n.780+13C>A | |
| ENST00000532957.5:n.1351+13C>A | ||
| NM_000238.3:c.1128+13C>A , LRG_288t1:c.1128+13C>A | NP_000229.1:n.1128+13C>A | |
| NM_172056.2:c.1128+13C>A , LRG_288t2:c.1128+13C>A | NP_742053.1:n.1128+13C>A | |
| XM_011516185.1:c.828+13C>A | XP_011514487.1:n.828+13C>A | |
| XM_011516186.1:c.1128+13C>A | XP_011514488.1:n.1128+13C>A | |
| XM_011516185.2:c.828+13C>A | XP_011514487.1:n.828+13C>A | |
| XM_011516186.3:c.1128+13C>A | XP_011514488.1:n.1128+13C>A | |
| XM_017012195.1:c.978+13C>A | XP_016867684.1:n.978+13C>A | |
| XM_017012196.1:c.951+13C>A | XP_016867685.1:n.951+13C>A | |
| NM_000238.4:c.1128+13C>A MANE Select | NP_000229.1:n.1128+13C>A |