Linked Data
ClinVar Variation Id:
3025700
ClinVar RCV Id:
RCV003885088
dbSNP Id:
rs771277298
ExAC:
1:94522354 C / T
gnomAD v2:
1-94522354-C-T
gnomAD v3:
1-94056798-C-T
gnomAD v4:
1-94056798-C-T
COSMIC:
COSM2260662
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94056798C>T , CM000663.2:g.94056798C>T | GRCh38 |
| NC_000001.10:g.94522354C>T , CM000663.1:g.94522354C>T | GRCh37 |
| NC_000001.9:g.94294942C>T | NCBI36 |
| NG_009073.1:g.69352G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2185G>A MANE Select | ENSP00000359245.3:p.Asp729Asn | |
| ENST00000649773.1:c.2161-1483G>A | ENSP00000496882.1:n.2161-1483G>A | |
| ENST00000370225.3:c.2185G>A | ENSP00000359245.3:p.Asp729Asn | |
| ENST00000536513.5:c.-65+6376G>A | ENSP00000439707.2:n.-65+6376G>A | |
| NM_000350.2:c.2185G>A | NP_000341.2:p.Asp729Asn | |
| NM_000350.3:c.2185G>A MANE Select | NP_000341.2:p.Asp729Asn |