Linked Data
ClinVar Variation Id:
330099
dbSNP Id:
rs369722854
gnomAD v3:
19-54123928-C-T
gnomAD v4:
19-54123928-C-T
MyVariant Identifiers:
chr19:g.54123928C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54123928C>T , CM000681.2:g.54123928C>T | GRCh38 |
| NC_000019.8:g.59319119C>T | NCBI36 |
| NG_009759.1:g.13518C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321030.9:c.697+10C>T MANE Select | ENSP00000324122.4:n.697+10C>T | |
| ENST00000321030.8:c.697+10C>T | ENSP00000324122.4:n.697+10C>T | |
| ENST00000391755.1:c.697+10C>T | ENSP00000375635.1:n.697+10C>T | |
| ENST00000419967.5:c.697+10C>T | ENSP00000405166.2:n.697+10C>T | |
| ENST00000445124.5:c.697+10C>T | ENSP00000408980.1:n.697+10C>T | |
| ENST00000445811.5:c.697+10C>T | ENSP00000395894.1:n.697+10C>T | |
| ENST00000447810.5:c.697+10C>T | ENSP00000395089.1:n.697+10C>T | |
| ENST00000466404.5:n.567+10C>T | ||
| ENST00000498612.1:n.480+10C>T | ||
| NM_015629.3:c.697+10C>T | NP_056444.3:n.697+10C>T | |
| XM_006723137.2:c.697+10C>T | XP_006723200.1:n.697+10C>T | |
| XR_935789.1:n.746+10C>T | ||
| XM_006723137.4:c.697+10C>T | XP_006723200.1:n.697+10C>T | |
| XR_002958293.1:n.827+10C>T | ||
| XR_935789.3:n.758+10C>T | ||
| NM_015629.4:c.697+10C>T MANE Select | NP_056444.3:n.697+10C>T |