Linked Data
ClinVar Variation Id:
99505
ClinVar RCV Id:
RCV000085866
RCV000408540
RCV000787525
RCV000787526
RCV000678516
RCV000763049
RCV001074394
RCV003224863
RCV004529896
RCV003993802
dbSNP Id:
rs62645944
ExAC:
1:94564350 C / A
gnomAD v2:
1-94564350-C-A
gnomAD v3:
1-94098794-C-A
gnomAD v4:
1-94098794-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94098794C>A , CM000663.2:g.94098794C>A | GRCh38 |
| NC_000001.10:g.94564350C>A , CM000663.1:g.94564350C>A | GRCh37 |
| NC_000001.9:g.94336938C>A | NCBI36 |
| NG_009073.1:g.27356G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.768G>T MANE Select | ENSP00000359245.3:p.Val256= | |
| ENST00000649773.1:c.768G>T | ENSP00000496882.1:p.Val256= | |
| ENST00000370225.3:c.768G>T | ENSP00000359245.3:p.Val256= | |
| NM_000350.2:c.768G>T | NP_000341.2:p.Val256= | |
| NM_000350.3:c.768G>T MANE Select | NP_000341.2:p.Val256= |