Linked Data
ClinVar Variation Id:
1103816
ClinVar RCV Id:
RCV001427635
dbSNP Id:
rs764970364
ExAC:
7:23205564 A / G
gnomAD v2:
7-23205564-A-G
gnomAD v3:
7-23165945-A-G
gnomAD v4:
7-23165945-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.23165945A>G , CM000669.2:g.23165945A>G | GRCh38 |
| NC_000007.13:g.23205564A>G , CM000669.1:g.23205564A>G | GRCh37 |
| NC_000007.12:g.23172089A>G | NCBI36 |
| NG_016983.1:g.65212A>G | |
| NG_016983.2:g.65212A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339077.10:c.1177+7A>G MANE Select | ENSP00000343273.4:n.1177+7A>G | |
| ENST00000339077.9:c.1177+7A>G | ENSP00000343273.4:n.1177+7A>G | |
| ENST00000409689.5:c.1033+7A>G | ENSP00000386263.1:n.1033+7A>G | |
| ENST00000469576.1:n.64+7A>G | ||
| ENST00000521082.5:c.*1185+7A>G | ENSP00000430351.1:n.*1185+7A>G | |
| NM_001031710.2:c.1177+7A>G | NP_001026880.2:n.1177+7A>G | |
| NM_018846.4:c.1033+7A>G | NP_061334.4:n.1033+7A>G | |
| NR_033328.1:n.1601+7A>G | ||
| XM_006715753.1:c.1216+7A>G | XP_006715816.1:n.1216+7A>G | |
| XM_006715754.1:c.1150+7A>G | XP_006715817.1:n.1150+7A>G | |
| XM_006715755.1:c.1150+7A>G | XP_006715818.1:n.1150+7A>G | |
| XM_006715756.1:c.1072+7A>G | XP_006715819.1:n.1072+7A>G | |
| XM_006715753.3:c.1216+7A>G | XP_006715816.1:n.1216+7A>G | |
| XM_006715754.3:c.1150+7A>G | XP_006715817.1:n.1150+7A>G | |
| XM_006715755.3:c.1150+7A>G | XP_006715818.1:n.1150+7A>G | |
| XM_006715756.3:c.1072+7A>G | XP_006715819.1:n.1072+7A>G | |
| XM_017012439.2:c.1111+7A>G | XP_016867928.1:n.1111+7A>G | |
| NM_001031710.3:c.1177+7A>G MANE Select | NP_001026880.2:n.1177+7A>G | |
| NM_018846.5:c.1033+7A>G | NP_061334.4:n.1033+7A>G | |
| NR_033328.2:n.1550+7A>G |