Linked Data
ClinVar Variation Id:
1144549
ClinVar RCV Id:
RCV001483085
dbSNP Id:
rs1409944940
gnomAD v2:
1-94506792-G-A
gnomAD v4:
1-94041236-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94041236G>A , CM000663.2:g.94041236G>A | GRCh38 |
| NC_000001.10:g.94506792G>A , CM000663.1:g.94506792G>A | GRCh37 |
| NC_000001.9:g.94279380G>A | NCBI36 |
| NG_009073.1:g.84914C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.3495C>T MANE Select | ENSP00000359245.3:p.Asn1165= | |
| ENST00000370225.3:c.3495C>T | ENSP00000359245.3:p.Asn1165= | |
| ENST00000536513.5:c.-64-1147C>T | ENSP00000439707.2:n.-64-1147C>T | |
| NM_000350.2:c.3495C>T | NP_000341.2:p.Asn1165= | |
| NM_000350.3:c.3495C>T MANE Select | NP_000341.2:p.Asn1165= |