Linked Data
dbSNP Id:
rs747285304
ExAC:
7:75933088 C / G
gnomAD v2:
7-75933088-C-G
gnomAD v4:
7-76303771-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76303771C>G , CM000669.2:g.76303771C>G | GRCh38 |
| NC_000007.13:g.75933088C>G , CM000669.1:g.75933088C>G | GRCh37 |
| NC_000007.12:g.75771024C>G | NCBI36 |
| NG_008995.1:g.6214C>G , LRG_248:g.6214C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248553.7:c.365-31C>G MANE Select | ENSP00000248553.6:n.365-31C>G | |
| ENST00000674547.1:c.365-31C>G | ENSP00000502461.1:n.365-31C>G | |
| ENST00000674638.1:c.365-36C>G | ENSP00000502651.1:n.365-36C>G | |
| ENST00000674650.1:c.365-213C>G | ENSP00000501628.1:n.365-213C>G | |
| ENST00000674965.1:c.365-6C>G | ENSP00000501765.1:n.365-6C>G | |
| ENST00000675134.1:c.365-31C>G | ENSP00000501831.1:n.365-31C>G | |
| ENST00000675226.1:c.369-36C>G | ENSP00000502510.1:n.369-36C>G | |
| ENST00000675417.1:n.567C>G | ||
| ENST00000675538.1:c.400-31C>G | ENSP00000502495.1:n.400-31C>G | |
| ENST00000675733.1:n.414C>G | ||
| ENST00000675906.1:c.365-31C>G | ENSP00000502714.1:n.365-31C>G | |
| ENST00000676195.1:n.81-31C>G | ||
| ENST00000676231.1:c.395-31C>G | ENSP00000502249.1:n.395-31C>G | |
| ENST00000248553.6:c.365-31C>G | ENSP00000248553.6:n.365-31C>G | |
| ENST00000429938.1:c.-140-31C>G | ENSP00000405285.1:n.-140-31C>G | |
| ENST00000447574.1:c.*498C>G | ENSP00000414357.1:n.*498C>G | |
| NM_001540.3:c.365-31C>G , LRG_248t1:c.365-31C>G | NP_001531.1:n.365-31C>G | |
| NM_001540.4:c.365-31C>G | NP_001531.1:n.365-31C>G | |
| NM_001540.5:c.365-31C>G MANE Select | NP_001531.1:n.365-31C>G |