Linked Data
ClinVar Variation Id:
207941
ClinVar RCV Id:
RCV000190216
dbSNP Id:
rs796052196
gnomAD v4:
7-150974709-A-T
PubMed:
PMID:26132555
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150974709A>T , CM000669.2:g.150974709A>T | GRCh38 |
| NC_000007.13:g.150671797A>T , CM000669.1:g.150671797A>T | GRCh37 |
| NC_000007.12:g.150302730A>T | NCBI36 |
| NG_008916.1:g.8218T>A , LRG_288:g.8218T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262186.10:c.307+2T>A MANE Select | ENSP00000262186.5:n.307+2T>A | |
| ENST00000262186.9:c.307+2T>A | ENSP00000262186.5:n.307+2T>A | |
| ENST00000430723.4:c.130+2T>A | ENSP00000387657.4:n.130+2T>A | |
| ENST00000532957.5:n.530+2T>A | ||
| NM_000238.3:c.307+2T>A , LRG_288t1:c.307+2T>A | NP_000229.1:n.307+2T>A | |
| NM_172056.2:c.307+2T>A , LRG_288t2:c.307+2T>A | NP_742053.1:n.307+2T>A | |
| XM_011516186.1:c.307+2T>A | XP_011514488.1:n.307+2T>A | |
| XM_011516186.3:c.307+2T>A | XP_011514488.1:n.307+2T>A | |
| XM_017012196.1:c.130+2T>A | XP_016867685.1:n.130+2T>A | |
| NM_000238.4:c.307+2T>A MANE Select | NP_000229.1:n.307+2T>A |