Linked Data
dbSNP Id:
rs769230318
ExAC:
19:51363380 C / T
gnomAD v2:
19-51363380-C-T
gnomAD v4:
19-50860124-C-T
MyVariant Identifiers:
chr19:g.51363380C>T (hg19)
chr19:g.51363380_51363381delinsTT (hg19)
chr19:g.50860124C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50860124C>T , CM000681.2:g.50860124C>T | GRCh38 |
| NC_000019.9:g.51363380C>T , CM000681.1:g.51363380C>T | GRCh37 |
| NC_000019.8:g.56055192C>T | NCBI36 |
| NG_011653.1:g.10210C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326003.7:c.783C>T MANE Select | ENSP00000314151.1:p.Pro261= | |
| ENST00000326003.6:c.783C>T | ENSP00000314151.1:p.Pro261= | |
| ENST00000360617.7:c.1225C>T | ENSP00000353829.2:n.1225C>T | |
| ENST00000422986.6:c.*439C>T | ENSP00000393628.2:n.*439C>T | |
| ENST00000595392.5:c.*284C>T | ENSP00000468912.1:n.*284C>T | |
| ENST00000595952.5:c.654C>T | ENSP00000471155.1:p.Pro218= | |
| ENST00000596333.1:n.961C>T | ||
| ENST00000598145.1:c.785C>T | ||
| ENST00000601349.5:n.2062C>T | ||
| ENST00000601812.1:n.1215C>T | ||
| ENST00000617027.4:c.660C>T | ENSP00000483513.1:p.Pro220= | |
| NM_001030047.1:c.*508C>T | NP_001025218.1:n.*508C>T | |
| NM_001030048.1:c.654C>T | NP_001025219.1:p.Pro218= | |
| NM_001648.2:c.783C>T MANE Select | NP_001639.1:p.Pro261= | |
| XM_011526923.1:c.801C>T | XP_011525225.1:p.Pro267= | |
| XR_935817.1:n.1324+870C>T |