Linked Data
ClinVar Variation Id:
842302
ClinVar RCV Id:
RCV001044698
dbSNP Id:
rs374458630
ExAC:
1:94526308 T / A
gnomAD v2:
1-94526308-T-A
gnomAD v3:
1-94060752-T-A
gnomAD v4:
1-94060752-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94060752T>A , CM000663.2:g.94060752T>A | GRCh38 |
| NC_000001.10:g.94526308T>A , CM000663.1:g.94526308T>A | GRCh37 |
| NC_000001.9:g.94298896T>A | NCBI36 |
| NG_009073.1:g.65398A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.1945A>T MANE Select | ENSP00000359245.3:p.Ile649Phe | |
| ENST00000649773.1:c.1945A>T | ENSP00000496882.1:p.Ile649Phe | |
| ENST00000370225.3:c.1945A>T | ENSP00000359245.3:p.Ile649Phe | |
| ENST00000472033.1:n.65A>T | ||
| ENST00000536513.5:c.-65+2422A>T | ENSP00000439707.2:n.-65+2422A>T | |
| NM_000350.2:c.1945A>T | NP_000341.2:p.Ile649Phe | |
| NM_000350.3:c.1945A>T MANE Select | NP_000341.2:p.Ile649Phe |