Linked Data
ClinVar Variation Id:
452444
dbSNP Id:
rs1265632174
gnomAD v3:
19-13262776-C-A
gnomAD v4:
19-13262776-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13262776C>A , CM000681.2:g.13262776C>A | GRCh38 |
| NC_000019.9:g.13373590C>A , CM000681.1:g.13373590C>A | GRCh37 |
| NC_000019.8:g.13234590C>A | NCBI36 |
| NG_011569.1:g.248685G>T , LRG_7:g.248685G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.4047G>T MANE Select | ENSP00000353362.5:p.Val1349= | |
| ENST00000573710.7:c.4053G>T | ENSP00000460092.3:p.Val1351= | |
| ENST00000635727.1:c.4050G>T | ENSP00000490001.1:p.Val1350= | |
| ENST00000635742.1:n.36G>T | ||
| ENST00000635895.1:c.4050G>T | ENSP00000490323.1:p.Val1350= | |
| ENST00000635917.1:n.539G>T | ||
| ENST00000636012.1:c.4050G>T | ENSP00000490223.1:p.Val1350= | |
| ENST00000636389.1:c.4050G>T | ENSP00000489992.1:p.Val1350= | |
| ENST00000636549.1:c.4050G>T | ENSP00000490578.1:p.Val1350= | |
| ENST00000636816.1:n.735G>T | ||
| ENST00000637004.1:n.513G>T | ||
| ENST00000637276.1:c.4050G>T | ENSP00000489777.1:p.Val1350= | |
| ENST00000637432.1:c.4059G>T | ENSP00000490617.1:p.Val1353= | |
| ENST00000637692.1:n.369G>T | ||
| ENST00000637736.1:c.3909G>T | ENSP00000489861.1:p.Val1303= | |
| ENST00000637769.1:c.4050G>T | ENSP00000489778.1:p.Val1350= | |
| ENST00000637927.1:c.4053G>T | ENSP00000489715.1:p.Val1351= | |
| ENST00000638009.2:c.4050G>T | ENSP00000489913.1:p.Val1350= | |
| ENST00000638029.1:c.4059G>T | ENSP00000489829.1:p.Val1353= | |
| ENST00000664864.1:c.4245G>T | ENSP00000499449.1:p.Val1415= | |
| ENST00000360228.9:c.4047G>T | ENSP00000353362.5:p.Val1349= | |
| ENST00000573710.6:c.4050G>T | ENSP00000460092.2:p.Val1350= | |
| ENST00000585802.5:c.105G>T | ENSP00000465598.1:p.Val35= | |
| ENST00000590205.1:n.126G>T | ||
| ENST00000614285.4:c.4059G>T | ENSP00000479983.1:p.Val1353= | |
| NM_000068.3:c.4059G>T | NP_000059.3:p.Val1353= | |
| NM_001127221.1:c.4050G>T , LRG_7t1:c.4050G>T | NP_001120693.1:p.Val1350= | |
| NM_001127222.1:c.4047G>T | NP_001120694.1:p.Val1349= | |
| NM_001174080.1:c.4050G>T | NP_001167551.1:p.Val1350= | |
| NM_023035.2:c.4059G>T | NP_075461.2:p.Val1353= | |
| NM_000068.4:c.4059G>T | NP_000059.3:p.Val1353= | |
| NM_001127222.2:c.4047G>T MANE Select | NP_001120694.1:p.Val1349= | |
| NM_001174080.2:c.4050G>T | NP_001167551.1:p.Val1350= | |
| NM_023035.3:c.4059G>T | NP_075461.2:p.Val1353= | |
| NM_001127221.2:c.4050G>T | NP_001120693.1:p.Val1350= |