Linked Data
ClinVar Variation Id:
18332
ClinVar RCV Id:
RCV000019998
dbSNP Id:
rs267606667
gnomAD v4:
12-102958296-C-A
PubMed:
PMID:14532329
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102958296C>A , CM000674.2:g.102958296C>A | GRCh38 |
| NC_000012.11:g.103352074C>A , CM000674.1:g.103352074C>A | GRCh37 |
| NC_000012.10:g.101876204C>A | NCBI36 |
| NG_008950.1:g.5623C>A | |
| NG_008690.2:g.5115G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266744.4:c.52C>A (ASCL1) MANE Select | ENSP00000266744.3:p.Pro18Thr | |
| ENST00000266744.3:c.52C>A (ASCL1) | ENSP00000266744.3:p.Pro18Thr | |
| ENST00000547319.1:n.115G>T (PAH) | ||
| ENST00000551337.5:c.-197G>T (PAH) | ENSP00000447620.1:n.-197G>T | |
| NM_004316.3:c.52C>A (ASCL1) | NP_004307.2:p.Pro18Thr | |
| NM_001354304.1:c.-197G>T (PAH) | NP_001341233.1:n.-197G>T | |
| NM_004316.4:c.52C>A (ASCL1) MANE Select | NP_004307.2:p.Pro18Thr | |
| NM_001354304.2:c.-197G>T (PAH) | NP_001341233.1:n.-197G>T |