Linked Data
ClinVar Variation Id:
193169
dbSNP Id:
rs767892925
ExAC:
19:13616880 C / A
gnomAD v2:
19-13616880-C-A
gnomAD v3:
19-13506066-C-A
gnomAD v4:
19-13506066-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13506066C>A , CM000681.2:g.13506066C>A | GRCh38 |
| NC_000019.9:g.13616880C>A , CM000681.1:g.13616880C>A | GRCh37 |
| NC_000019.8:g.13477880C>A | NCBI36 |
| NG_011569.1:g.5395G>T , LRG_7:g.5395G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.159G>T MANE Select | ENSP00000353362.5:p.Ala53= | |
| ENST00000573710.7:c.159G>T | ENSP00000460092.3:p.Ala53= | |
| ENST00000574974.3:c.195-50877G>T | ENSP00000459963.2:n.195-50877G>T | |
| ENST00000635727.1:c.159G>T | ENSP00000490001.1:p.Ala53= | |
| ENST00000635895.1:c.159G>T | ENSP00000490323.1:p.Ala53= | |
| ENST00000636012.1:c.159G>T | ENSP00000490223.1:p.Ala53= | |
| ENST00000636389.1:c.159G>T | ENSP00000489992.1:p.Ala53= | |
| ENST00000636549.1:c.159G>T | ENSP00000490578.1:p.Ala53= | |
| ENST00000636966.1:n.47G>T | ||
| ENST00000637276.1:c.159G>T | ENSP00000489777.1:p.Ala53= | |
| ENST00000637432.1:c.159G>T | ENSP00000490617.1:p.Ala53= | |
| ENST00000637616.1:n.167G>T | ||
| ENST00000637736.1:c.159G>T | ENSP00000489861.1:p.Ala53= | |
| ENST00000637769.1:c.159G>T | ENSP00000489778.1:p.Ala53= | |
| ENST00000637927.1:c.159G>T | ENSP00000489715.1:p.Ala53= | |
| ENST00000637966.1:n.12G>T | ||
| ENST00000638009.2:c.159G>T | ENSP00000489913.1:p.Ala53= | |
| ENST00000638029.1:c.159G>T | ENSP00000489829.1:p.Ala53= | |
| ENST00000664864.1:c.354G>T | ENSP00000499449.1:p.Ala118= | |
| ENST00000360228.9:c.159G>T | ENSP00000353362.5:p.Ala53= | |
| ENST00000573710.6:c.159G>T | ENSP00000460092.2:p.Ala53= | |
| ENST00000574974.1:c.68-50877G>T | ENSP00000459963.1:n.68-50877G>T | |
| ENST00000614285.4:c.159G>T | ENSP00000479983.1:p.Ala53= | |
| NM_000068.3:c.159G>T | NP_000059.3:p.Ala53= | |
| NM_001127221.1:c.159G>T , LRG_7t1:c.159G>T | NP_001120693.1:p.Ala53= | |
| NM_001127222.1:c.159G>T | NP_001120694.1:p.Ala53= | |
| NM_001174080.1:c.159G>T | NP_001167551.1:p.Ala53= | |
| NM_023035.2:c.159G>T | NP_075461.2:p.Ala53= | |
| NM_000068.4:c.159G>T | NP_000059.3:p.Ala53= | |
| NM_001127222.2:c.159G>T MANE Select | NP_001120694.1:p.Ala53= | |
| NM_001174080.2:c.159G>T | NP_001167551.1:p.Ala53= | |
| NM_023035.3:c.159G>T | NP_075461.2:p.Ala53= | |
| NM_001127221.2:c.159G>T | NP_001120693.1:p.Ala53= |