Linked Data
ClinVar Variation Id:
265646
dbSNP Id:
rs776073429
ExAC:
7:143020480 G / A
gnomAD v2:
7-143020480-G-A
gnomAD v3:
7-143323387-G-A
gnomAD v4:
7-143323387-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143323387G>A , CM000669.2:g.143323387G>A | GRCh38 |
| NC_000007.13:g.143020480G>A , CM000669.1:g.143020480G>A | GRCh37 |
| NC_000007.12:g.142730602G>A | NCBI36 |
| NG_009815.1:g.12262G>A | |
| NG_009815.2:g.12262G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.774+1G>A | ENSP00000498052.2:n.774+1G>A | |
| ENST00000343257.7:c.774+1G>A MANE Select | ENSP00000339867.2:n.774+1G>A | |
| ENST00000432192.6:c.465-186G>A | ||
| ENST00000455478.6:c.228+1G>A | ENSP00000400027.2:n.228+1G>A | |
| ENST00000650516.1:c.774+1G>A | ENSP00000498052.1:n.774+1G>A | |
| ENST00000343257.6:c.774+1G>A | ENSP00000339867.2:n.774+1G>A | |
| ENST00000432192.5:c.155-186G>A | ||
| ENST00000455478.5:c.232+1G>A | ||
| ENST00000495612.1:n.154+1539G>A | ||
| NM_000083.2:c.774+1G>A | NP_000074.2:n.774+1G>A | |
| NR_046453.1:n.861+1G>A | ||
| XM_011515781.1:c.774+1G>A | XP_011514083.1:n.774+1G>A | |
| XM_017011739.1:c.403+1539G>A | XP_016867228.1:n.403+1539G>A | |
| XM_017011740.1:c.403+1539G>A | XP_016867229.1:n.403+1539G>A | |
| NM_000083.3:c.774+1G>A MANE Select | NP_000074.3:n.774+1G>A | |
| NR_046453.2:n.876+1G>A |