Linked Data
ClinVar Variation Id:
1579559
ClinVar RCV Id:
RCV002102514
dbSNP Id:
rs1416432182
gnomAD v2:
11-6637914-G-A
gnomAD v3:
11-6616683-G-A
gnomAD v4:
11-6616683-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616683G>A , CM000673.2:g.6616683G>A | GRCh38 |
| NC_000011.9:g.6637914G>A , CM000673.1:g.6637914G>A | GRCh37 |
| NC_000011.8:g.6594490G>A | NCBI36 |
| NG_008653.1:g.7779C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.750C>T | ENSP00000507321.1:p.Ser250= | |
| ENST00000299427.12:c.864C>T MANE Select | ENSP00000299427.6:p.Ser288= | |
| ENST00000436873.7:c.313-609C>T | ||
| ENST00000524788.2:n.2023C>T | ||
| ENST00000524903.2:n.2139C>T | ||
| ENST00000528807.2:n.520C>T | ||
| ENST00000530040.2:n.480-180C>T | ||
| ENST00000533371.6:c.135C>T | ENSP00000437066.1:p.Ser45= | |
| ENST00000642892.1:c.135C>T | ENSP00000494165.1:p.Ser45= | |
| ENST00000643439.1:c.*604C>T | ENSP00000495849.1:n.*604C>T | |
| ENST00000643479.1:n.893C>T | ||
| ENST00000643516.1:c.396-180C>T | ||
| ENST00000644151.1:n.2303C>T | ||
| ENST00000644218.1:c.864C>T | ENSP00000493574.1:p.Ser288= | |
| ENST00000644683.1:c.*317C>T | ENSP00000494085.1:n.*317C>T | |
| ENST00000644810.1:c.585C>T | ENSP00000495895.1:p.Ser195= | |
| ENST00000644831.1:n.1040C>T | ||
| ENST00000644933.1:c.135C>T | ENSP00000496133.1:p.Ser45= | |
| ENST00000645020.1:n.2154C>T | ||
| ENST00000645285.1:c.135C>T | ENSP00000495058.1:p.Ser45= | |
| ENST00000645331.1:n.1230C>T | ||
| ENST00000645620.1:c.135C>T | ENSP00000493657.1:p.Ser45= | |
| ENST00000646777.1:n.1040C>T | ||
| ENST00000647016.1:n.1344C>T | ||
| ENST00000647152.1:c.135C>T | ENSP00000495893.1:p.Ser45= | |
| ENST00000647209.1:c.*733C>T | ENSP00000495558.1:n.*733C>T | |
| ENST00000647346.1:n.1884C>T | ||
| ENST00000299427.10:c.864C>T | ENSP00000299427.6:p.Ser288= | |
| ENST00000436873.6:c.451-180C>T | ENSP00000398136.2:n.451-180C>T | |
| ENST00000528807.1:n.414C>T | ||
| ENST00000533371.5:c.135C>T | ENSP00000437066.1:p.Ser45= | |
| ENST00000611494.4:c.864C>T | ENSP00000484546.1:p.Ser288= | |
| NM_000391.3:c.864C>T | NP_000382.3:p.Ser288= | |
| NM_000391.4:c.864C>T MANE Select | NP_000382.3:p.Ser288= |