Linked Data
ClinVar Variation Id:
1116757
ClinVar RCV Id:
RCV001445234
dbSNP Id:
rs760390744
ExAC:
7:75933109 C / T
gnomAD v2:
7-75933109-C-T
gnomAD v3:
7-76303792-C-T
gnomAD v4:
7-76303792-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76303792C>T , CM000669.2:g.76303792C>T | GRCh38 |
| NC_000007.13:g.75933109C>T , CM000669.1:g.75933109C>T | GRCh37 |
| NC_000007.12:g.75771045C>T | NCBI36 |
| NG_008995.1:g.6235C>T , LRG_248:g.6235C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248553.7:c.365-10C>T MANE Select | ENSP00000248553.6:n.365-10C>T | |
| ENST00000674547.1:c.365-10C>T | ENSP00000502461.1:n.365-10C>T | |
| ENST00000674638.1:c.365-15C>T | ENSP00000502651.1:n.365-15C>T | |
| ENST00000674650.1:c.365-192C>T | ENSP00000501628.1:n.365-192C>T | |
| ENST00000674965.1:c.*11C>T | ENSP00000501765.1:n.*11C>T | |
| ENST00000675134.1:c.365-10C>T | ENSP00000501831.1:n.365-10C>T | |
| ENST00000675226.1:c.369-15C>T | ENSP00000502510.1:n.369-15C>T | |
| ENST00000675417.1:n.588C>T | ||
| ENST00000675538.1:c.400-10C>T | ENSP00000502495.1:n.400-10C>T | |
| ENST00000675733.1:n.435C>T | ||
| ENST00000675906.1:c.365-10C>T | ENSP00000502714.1:n.365-10C>T | |
| ENST00000676195.1:n.81-10C>T | ||
| ENST00000676231.1:c.395-10C>T | ENSP00000502249.1:n.395-10C>T | |
| ENST00000248553.6:c.365-10C>T | ENSP00000248553.6:n.365-10C>T | |
| ENST00000429938.1:c.-140-10C>T | ENSP00000405285.1:n.-140-10C>T | |
| ENST00000447574.1:c.*519C>T | ENSP00000414357.1:n.*519C>T | |
| NM_001540.3:c.365-10C>T , LRG_248t1:c.365-10C>T | NP_001531.1:n.365-10C>T | |
| NM_001540.4:c.365-10C>T | NP_001531.1:n.365-10C>T | |
| NM_001540.5:c.365-10C>T MANE Select | NP_001531.1:n.365-10C>T |