Linked Data
ClinVar Variation Id:
2753785
ClinVar RCV Id:
RCV003531793
dbSNP Id:
rs750266253
gnomAD v4:
7-150957518-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150957518G>C , CM000669.2:g.150957518G>C | GRCh38 |
| NC_000007.13:g.150654606G>C , CM000669.1:g.150654606G>C | GRCh37 |
| NC_000007.12:g.150285539G>C | NCBI36 |
| NG_008916.1:g.25409C>G , LRG_288:g.25409C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1750-16C>G | ||
| ENST00000262186.10:c.917-16C>G MANE Select | ENSP00000262186.5:n.917-16C>G | |
| ENST00000262186.9:c.917-16C>G | ENSP00000262186.5:n.917-16C>G | |
| ENST00000430723.4:c.569-16C>G | ENSP00000387657.4:n.569-16C>G | |
| ENST00000532957.5:n.1140-16C>G | ||
| NM_000238.3:c.917-16C>G , LRG_288t1:c.917-16C>G | NP_000229.1:n.917-16C>G | |
| NM_172056.2:c.917-16C>G , LRG_288t2:c.917-16C>G | NP_742053.1:n.917-16C>G | |
| XM_011516185.1:c.617-16C>G | XP_011514487.1:n.617-16C>G | |
| XM_011516186.1:c.917-16C>G | XP_011514488.1:n.917-16C>G | |
| XM_011516185.2:c.617-16C>G | XP_011514487.1:n.617-16C>G | |
| XM_011516186.3:c.917-16C>G | XP_011514488.1:n.917-16C>G | |
| XM_017012195.1:c.767-16C>G | XP_016867684.1:n.767-16C>G | |
| XM_017012196.1:c.740-16C>G | XP_016867685.1:n.740-16C>G | |
| NM_000238.4:c.917-16C>G MANE Select | NP_000229.1:n.917-16C>G |