Linked Data
ClinVar Variation Id:
2040215
ClinVar RCV Id:
RCV002886312
dbSNP Id:
rs72557907
ExAC:
7:75610939 G / A
gnomAD v2:
7-75610939-G-A
gnomAD v3:
7-75981621-G-A
gnomAD v4:
7-75981621-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75981621G>A , CM000669.2:g.75981621G>A | GRCh38 |
| NC_000007.13:g.75610939G>A , CM000669.1:g.75610939G>A | GRCh37 |
| NC_000007.12:g.75448875G>A | NCBI36 |
| NG_008930.1:g.71520G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475509.2:c.506+15G>A | ENSP00000516446.1:n.506+15G>A | |
| ENST00000706544.1:c.731+15G>A | ENSP00000516442.1:n.731+15G>A | |
| ENST00000706545.1:c.731+15G>A | ENSP00000516443.1:n.731+15G>A | |
| ENST00000706546.1:c.731+15G>A | ENSP00000516444.1:n.731+15G>A | |
| ENST00000706547.1:c.731+15G>A | ENSP00000516445.1:n.731+15G>A | |
| ENST00000461988.6:c.731+15G>A MANE Select | ENSP00000419970.1:n.731+15G>A | |
| ENST00000394893.5:c.731+15G>A | ENSP00000378355.1:n.731+15G>A | |
| ENST00000412064.6:c.566+524G>A | ENSP00000404731.2:n.566+524G>A | |
| ENST00000447222.5:c.882+15G>A | ||
| ENST00000454934.5:c.*36+15G>A | ENSP00000414263.1:n.*36+15G>A | |
| ENST00000460892.1:n.331+15G>A | ||
| ENST00000461988.5:c.731+15G>A | ENSP00000419970.1:n.731+15G>A | |
| NM_000941.2:c.731+15G>A | NP_000932.3:n.731+15G>A | |
| NM_000941.3:c.731+15G>A | NP_000932.3:n.731+15G>A | |
| NM_001367562.1:c.731+15G>A | NP_001354491.1:n.731+15G>A | |
| NM_001382655.1:c.785+15G>A | NP_001369584.1:n.785+15G>A | |
| NM_001382657.1:c.731+15G>A | NP_001369586.1:n.731+15G>A | |
| NM_001382658.1:c.731+15G>A | NP_001369587.1:n.731+15G>A | |
| NM_001382659.1:c.731+15G>A | NP_001369588.1:n.731+15G>A | |
| NM_001382662.1:c.731+15G>A | NP_001369591.1:n.731+15G>A | |
| NM_001367562.3:c.722+15G>A | NP_001354491.2:n.722+15G>A | |
| NM_001382655.3:c.776+15G>A | NP_001369584.2:n.776+15G>A | |
| NM_001382657.2:c.722+15G>A | NP_001369586.2:n.722+15G>A | |
| NM_001382658.3:c.722+15G>A | NP_001369587.2:n.722+15G>A | |
| NM_001382659.3:c.722+15G>A | NP_001369588.2:n.722+15G>A | |
| NM_001382662.3:c.722+15G>A | NP_001369591.2:n.722+15G>A | |
| NM_001395413.1:c.722+15G>A MANE Select | NP_001382342.1:n.722+15G>A |