Linked Data
ClinVar Variation Id:
1879686
dbSNP Id:
rs144563768
ExAC:
7:40039098 T / G
gnomAD v2:
7-40039098-T-G
gnomAD v3:
7-39999499-T-G
gnomAD v4:
7-39999499-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.39999499T>G , CM000669.2:g.39999499T>G | GRCh38 |
| NC_000007.13:g.40039098T>G , CM000669.1:g.40039098T>G | GRCh37 |
| NC_000007.12:g.40005623T>G | NCBI36 |
| NG_052965.1:g.54140T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000181839.10:c.2181T>G MANE Select | ENSP00000181839.4:p.Thr727= | |
| ENST00000340829.10:c.2181T>G | ENSP00000340557.5:p.Thr727= | |
| ENST00000484589.2:c.733T>G | ||
| ENST00000642213.1:n.663T>G | ||
| ENST00000643859.1:c.1072T>G | ||
| ENST00000643915.1:c.495T>G | ENSP00000496187.1:p.Thr165= | |
| ENST00000645470.1:c.111T>G | ENSP00000495036.1:p.Thr37= | |
| ENST00000646039.1:c.1521T>G | ENSP00000494168.1:p.Thr507= | |
| ENST00000647453.1:n.1250T>G | ||
| ENST00000647518.1:n.4018T>G | ||
| ENST00000181839.8:c.2181T>G | ENSP00000181839.4:p.Thr727= | |
| ENST00000340829.9:c.2181T>G | ENSP00000340557.5:p.Thr727= | |
| ENST00000484589.1:n.733T>G | ||
| ENST00000611390.1:c.339T>G | ENSP00000484610.1:p.Thr113= | |
| ENST00000613626.4:c.339T>G | ENSP00000480835.1:p.Thr113= | |
| NM_003718.4:c.2181T>G | NP_003709.3:p.Thr727= | |
| NM_031267.3:c.2181T>G | NP_112557.2:p.Thr727= | |
| XM_011515597.1:c.2181T>G | XP_011513899.1:p.Thr727= | |
| XM_011515598.1:c.2181T>G | XP_011513900.1:p.Thr727= | |
| XM_011515597.3:c.2181T>G | XP_011513899.1:p.Thr727= | |
| XM_017012750.2:c.2181T>G | XP_016868239.1:p.Thr727= | |
| XM_017012751.2:c.2181T>G | XP_016868240.1:p.Thr727= | |
| NM_003718.5:c.2181T>G MANE Select | NP_003709.3:p.Thr727= |