Linked Data
ClinVar Variation Id:
1117619
ClinVar RCV Id:
RCV002237162
dbSNP Id:
rs753449716
ExAC:
19:52249774 C / T
gnomAD v2:
19-52249774-C-T
gnomAD v3:
19-51746521-C-T
gnomAD v4:
19-51746521-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51746521C>T , CM000681.2:g.51746521C>T | GRCh38 |
| NC_000019.9:g.52249774C>T , CM000681.1:g.52249774C>T | GRCh37 |
| NC_000019.8:g.56941586C>T | NCBI36 |
| NG_023426.1:g.10377G>A , LRG_146:g.10377G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000594900.2:c.474G>A | ENSP00000470750.2:p.Leu158= | |
| ENST00000600815.2:c.474G>A | ENSP00000472936.2:p.Leu158= | |
| ENST00000304748.5:c.474G>A MANE Select | ENSP00000302707.3:p.Leu158= | |
| ENST00000304748.4:c.474G>A | ENSP00000302707.3:p.Leu158= | |
| ENST00000595042.5:c.474G>A | ENSP00000471493.1:p.Leu158= | |
| ENST00000600815.1:c.474G>A | ENSP00000472936.1:p.Leu158= | |
| NM_001193306.1:c.474G>A | NP_001180235.1:p.Leu158= | |
| NM_002029.3:c.474G>A , LRG_146t1:c.474G>A | NP_002020.1:p.Leu158= | |
| NM_001193306.2:c.474G>A | NP_001180235.1:p.Leu158= | |
| NM_002029.4:c.474G>A MANE Select | NP_002020.1:p.Leu158= |