Linked Data
ClinVar Variation Id:
1305742
ClinVar RCV Id:
RCV001768949
dbSNP Id:
rs1666302673
gnomAD v4:
1-6112194-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6112194C>T , CM000663.2:g.6112194C>T | GRCh38 |
| NC_000001.10:g.6172254C>T , CM000663.1:g.6172254C>T | GRCh37 |
| NC_000001.9:g.6094841C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262450.8:c.5086G>A MANE Select | ENSP00000262450.3:p.Asp1696Asn | |
| ENST00000262450.7:c.5086G>A | ENSP00000262450.3:p.Asp1696Asn | |
| ENST00000377999.5:c.1989G>A | ENSP00000367238.2:n.1989G>A | |
| ENST00000462991.5:c.3339G>A | ||
| ENST00000496404.1:c.3804G>A | ENSP00000433676.1:n.3804G>A | |
| NM_015557.2:c.5086G>A | NP_056372.1:p.Asp1696Asn | |
| NM_015557.3:c.5086G>A MANE Select | NP_056372.1:p.Asp1696Asn |