Linked Data
ClinVar Variation Id:
1044396
ClinVar RCV Id:
RCV001348632
dbSNP Id:
rs1557786289
gnomAD v4:
1-94060634-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94060634T>A , CM000663.2:g.94060634T>A | GRCh38 |
| NC_000001.10:g.94526190T>A , CM000663.1:g.94526190T>A | GRCh37 |
| NC_000001.9:g.94298778T>A | NCBI36 |
| NG_009073.1:g.65516A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2063A>T MANE Select | ENSP00000359245.3:p.Asn688Ile | |
| ENST00000649773.1:c.2063A>T | ENSP00000496882.1:p.Asn688Ile | |
| ENST00000370225.3:c.2063A>T | ENSP00000359245.3:p.Asn688Ile | |
| ENST00000472033.1:n.183A>T | ||
| ENST00000536513.5:c.-65+2540A>T | ENSP00000439707.2:n.-65+2540A>T | |
| NM_000350.2:c.2063A>T | NP_000341.2:p.Asn688Ile | |
| NM_000350.3:c.2063A>T MANE Select | NP_000341.2:p.Asn688Ile |