Linked Data
ClinVar Variation Id:
99082
ClinVar RCV Id:
RCV000085426
dbSNP Id:
rs61752397
ExAC:
1:94528272 C / A
gnomAD v2:
1-94528272-C-A
gnomAD v4:
1-94062716-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94062716C>A , CM000663.2:g.94062716C>A | GRCh38 |
| NC_000001.10:g.94528272C>A , CM000663.1:g.94528272C>A | GRCh37 |
| NC_000001.9:g.94300860C>A | NCBI36 |
| NG_009073.1:g.63434G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.1798G>T MANE Select | ENSP00000359245.3:p.Asp600Tyr | |
| ENST00000649773.1:c.1798G>T | ENSP00000496882.1:p.Asp600Tyr | |
| ENST00000370225.3:c.1798G>T | ENSP00000359245.3:p.Asp600Tyr | |
| ENST00000536513.5:c.-65+458G>T | ENSP00000439707.2:n.-65+458G>T | |
| NM_000350.2:c.1798G>T | NP_000341.2:p.Asp600Tyr | |
| NM_000350.3:c.1798G>T MANE Select | NP_000341.2:p.Asp600Tyr |