Linked Data
ClinVar Variation Id:
708669
ClinVar RCV Id:
RCV000879972
dbSNP Id:
rs142726395
ExAC:
7:40039041 C / T
gnomAD v2:
7-40039041-C-T
gnomAD v3:
7-39999442-C-T
gnomAD v4:
7-39999442-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.39999442C>T , CM000669.2:g.39999442C>T | GRCh38 |
| NC_000007.13:g.40039041C>T , CM000669.1:g.40039041C>T | GRCh37 |
| NC_000007.12:g.40005566C>T | NCBI36 |
| NG_052965.1:g.54083C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000181839.10:c.2124C>T MANE Select | ENSP00000181839.4:p.Ile708= | |
| ENST00000340829.10:c.2124C>T | ENSP00000340557.5:p.Ile708= | |
| ENST00000484589.2:c.676C>T | ||
| ENST00000642213.1:n.606C>T | ||
| ENST00000643859.1:c.1015C>T | ||
| ENST00000643915.1:c.438C>T | ENSP00000496187.1:p.Ile146= | |
| ENST00000645470.1:c.54C>T | ENSP00000495036.1:p.Ile18= | |
| ENST00000646039.1:c.1464C>T | ENSP00000494168.1:p.Ile488= | |
| ENST00000646437.1:c.758C>T | ||
| ENST00000647453.1:n.1193C>T | ||
| ENST00000647518.1:n.3961C>T | ||
| ENST00000181839.8:c.2124C>T | ENSP00000181839.4:p.Ile708= | |
| ENST00000340829.9:c.2124C>T | ENSP00000340557.5:p.Ile708= | |
| ENST00000484589.1:n.676C>T | ||
| ENST00000611390.1:c.282C>T | ENSP00000484610.1:p.Ile94= | |
| ENST00000613626.4:c.282C>T | ENSP00000480835.1:p.Ile94= | |
| NM_003718.4:c.2124C>T | NP_003709.3:p.Ile708= | |
| NM_031267.3:c.2124C>T | NP_112557.2:p.Ile708= | |
| XM_011515597.1:c.2124C>T | XP_011513899.1:p.Ile708= | |
| XM_011515598.1:c.2124C>T | XP_011513900.1:p.Ile708= | |
| XM_011515597.3:c.2124C>T | XP_011513899.1:p.Ile708= | |
| XM_017012750.2:c.2124C>T | XP_016868239.1:p.Ile708= | |
| XM_017012751.2:c.2124C>T | XP_016868240.1:p.Ile708= | |
| NM_003718.5:c.2124C>T MANE Select | NP_003709.3:p.Ile708= |