Linked Data
ClinVar Variation Id:
369291
ClinVar RCV Id:
RCV000390160
dbSNP Id:
rs117225554
gnomAD v3:
19-54115396-C-T
gnomAD v4:
19-54115396-C-T
MyVariant Identifiers:
chr19:g.54115396C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54115396C>T , CM000681.2:g.54115396C>T | GRCh38 |
| NC_000019.8:g.59310588C>T | NCBI36 |
| NG_009759.1:g.4987C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391759.6:c.-127G>A (TFPT) MANE Select | ENSP00000375639.1:n.-127G>A | |
| ENST00000391759.5:c.-127G>A (TFPT) | ENSP00000375639.1:n.-127G>A | |
| NM_013342.3:c.-127G>A (TFPT) | NP_037474.1:n.-127G>A | |
| XM_006723137.2:c.-440C>T (PRPF31) | XP_006723200.1:n.-440C>T | |
| XR_935813.3:n.262G>A (TFPT) | ||
| NM_013342.4:c.-127G>A (TFPT) MANE Select | NP_037474.1:n.-127G>A |