Linked Data
ClinVar Variation Id:
18231
ClinVar RCV Id:
RCV000019892
dbSNP Id:
rs78574148
gnomAD v4:
4-73406750-G-A
COSMIC:
COSM4660973
PubMed:
PMID:1518850
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73406750G>A , CM000666.2:g.73406750G>A | GRCh38 |
| NC_000004.11:g.74272467G>A , CM000666.1:g.74272467G>A | GRCh37 |
| NC_000004.10:g.74491331G>A | NCBI36 |
| NG_009291.1:g.7496G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.259G>A MANE Select | ENSP00000295897.4:p.Asp87Asn | |
| ENST00000295897.8:c.259G>A | ENSP00000295897.4:p.Asp87Asn | |
| ENST00000401494.7:c.137+1577G>A | ENSP00000384695.3:n.137+1577G>A | |
| ENST00000415165.6:c.137+1577G>A | ENSP00000401820.2:n.137+1577G>A | |
| ENST00000441319.5:c.265G>A | ENSP00000392541.1:p.Asp89Asn | |
| ENST00000476441.6:c.79+2344G>A | ENSP00000423727.1:n.79+2344G>A | |
| ENST00000503124.5:c.21G>A | ENSP00000421027.1:p.Val7= | |
| ENST00000509063.5:c.259G>A | ENSP00000422784.1:p.Asp87Asn | |
| ENST00000510166.5:n.295G>A | ||
| ENST00000514786.1:n.228G>A | ||
| ENST00000515133.5:n.300G>A | ||
| ENST00000621085.4:c.259G>A | ENSP00000483421.1:p.Asp87Asn | |
| ENST00000621628.4:c.259G>A | ENSP00000480485.1:p.Asp87Asn | |
| NM_000477.5:c.259G>A | NP_000468.1:p.Asp87Asn | |
| NM_000477.6:c.259G>A | NP_000468.1:p.Asp87Asn | |
| NM_000477.7:c.259G>A MANE Select | NP_000468.1:p.Asp87Asn |