Linked Data
ClinVar Variation Id:
423436
ClinVar RCV Id:
RCV000478576
dbSNP Id:
rs1064796423
gnomAD v3:
19-613291-C-T
gnomAD v4:
19-613291-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.613291C>T , CM000681.2:g.613291C>T | GRCh38 |
| NC_000019.9:g.613291C>T , CM000681.1:g.613291C>T | GRCh37 |
| NC_000019.8:g.564291C>T | NCBI36 |
| NG_052810.1:g.28399C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251287.3:c.1628C>T MANE Select | ENSP00000251287.1:p.Pro543Leu | |
| ENST00000251287.2:c.1628C>T | ENSP00000251287.1:p.Pro543Leu | |
| NM_001194.3:c.1628C>T | NP_001185.3:p.Pro543Leu | |
| NM_001194.4:c.1628C>T MANE Select | NP_001185.3:p.Pro543Leu |