Linked Data
ClinVar Variation Id:
256204
dbSNP Id:
rs2075604
ExAC:
19:1218523 G / T
gnomAD v2:
19-1218523-G-T
gnomAD v3:
19-1218524-G-T
gnomAD v4:
19-1218524-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1218524G>T , CM000681.2:g.1218524G>T | GRCh38 |
| NC_000019.9:g.1218523G>T , CM000681.1:g.1218523G>T | GRCh37 |
| NC_000019.8:g.1169523G>T | NCBI36 |
| NG_007460.2:g.34118G>T , LRG_319:g.34118G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.374+24G>T | ENSP00000490268.2:n.374+24G>T | |
| ENST00000585748.3:c.2+24G>T | ENSP00000477641.2:n.2+24G>T | |
| ENST00000585851.2:c.291-1849G>T | ENSP00000467912.2:n.291-1849G>T | |
| ENST00000326873.12:c.374+24G>T MANE Select | ENSP00000324856.6:n.374+24G>T | |
| ENST00000652231.1:c.374+24G>T | ENSP00000498804.1:n.374+24G>T | |
| ENST00000326873.11:c.374+24G>T | ENSP00000324856.6:n.374+24G>T | |
| ENST00000585748.2:c.2+24G>T | ENSP00000477641.1:n.2+24G>T | |
| ENST00000585851.1:c.291-1849G>T | ENSP00000467912.1:n.291-1849G>T | |
| ENST00000586243.5:c.374+24G>T | ENSP00000467240.2:n.374+24G>T | |
| ENST00000586358.5:n.197+24G>T | ||
| ENST00000589152.5:n.464+24G>T | ||
| ENST00000593219.5:c.*199+24G>T | ENSP00000466610.1:n.*199+24G>T | |
| NM_000455.4:c.374+24G>T , LRG_319t1:c.374+24G>T | NP_000446.1:n.374+24G>T | |
| XM_005259617.1:c.374+24G>T | XP_005259674.1:n.374+24G>T | |
| XM_005259618.3:c.374+24G>T | XP_005259675.1:n.374+24G>T | |
| XM_011528209.1:c.152+24G>T | XP_011526511.1:n.152+24G>T | |
| XR_936204.1:n.999+24G>T | ||
| XM_005259617.3:c.374+24G>T | XP_005259674.1:n.374+24G>T | |
| XM_011528209.2:c.152+24G>T | XP_011526511.1:n.152+24G>T | |
| XR_001753738.2:n.999+24G>T | ||
| XR_001753739.1:n.999+24G>T | ||
| XR_001753740.2:n.999+24G>T | ||
| NM_000455.5:c.374+24G>T MANE Select | NP_000446.1:n.374+24G>T |