Linked Data
ClinVar Variation Id:
330087
dbSNP Id:
rs45619231
gnomAD v3:
19-54115619-C-A
gnomAD v4:
19-54115619-C-A
MyVariant Identifiers:
chr19:g.54115619C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54115619C>A , CM000681.2:g.54115619C>A | GRCh38 |
| NC_000019.8:g.59310811C>A | NCBI36 |
| NG_009759.1:g.5210C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391759.6:c.-350G>T (TFPT) MANE Select | ENSP00000375639.1:n.-350G>T | |
| ENST00000321030.8:c.-187C>A (PRPF31) | ENSP00000324122.4:n.-187C>A | |
| ENST00000391759.5:c.-350G>T (TFPT) | ENSP00000375639.1:n.-350G>T | |
| ENST00000419967.5:c.-187C>A (PRPF31) | ENSP00000405166.2:n.-187C>A | |
| NM_013342.3:c.-350G>T (TFPT) | NP_037474.1:n.-350G>T | |
| NM_015629.3:c.-187C>A (PRPF31) | NP_056444.3:n.-187C>A | |
| XM_006723137.2:c.-217C>A (PRPF31) | XP_006723200.1:n.-217C>A | |
| XR_935813.3:n.39G>T (TFPT) | ||
| NM_013342.4:c.-350G>T (TFPT) MANE Select | NP_037474.1:n.-350G>T |