Linked Data
ClinVar Variation Id:
14356
ClinVar RCV Id:
RCV000015430
dbSNP Id:
rs121913555
ExAC:
19:51885684 A / C
gnomAD v2:
19-51885684-A-C
gnomAD v3:
19-51382430-A-C
gnomAD v4:
19-51382430-A-C
PubMed:
PMID:11917274
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51382430A>C , CM000681.2:g.51382430A>C | GRCh38 |
| NC_000019.9:g.51885684A>C , CM000681.1:g.51885684A>C | GRCh37 |
| NC_000019.8:g.56577496A>C | NCBI36 |
| NG_012924.1:g.10527T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000596399.2:c.313T>G MANE Select | ENSP00000472090.2:p.Phe105Val | |
| ENST00000221973.7:c.439T>G | ENSP00000221973.2:p.Phe147Val | |
| ENST00000596399.1:c.313T>G | ENSP00000472090.1:p.Phe105Val | |
| NM_001161748.1:c.313T>G | NP_001155220.1:p.Phe105Val | |
| NM_030657.3:c.439T>G | NP_085915.2:p.Phe147Val | |
| NM_001161748.2:c.313T>G MANE Select | NP_001155220.1:p.Phe105Val | |
| NM_030657.4:c.439T>G | NP_085915.2:p.Phe147Val |