Linked Data
ClinVar Variation Id:
136239
ClinVar RCV Id:
RCV000123437
RCV000332468
RCV000291533
RCV000382403
RCV000277374
RCV001494980
RCV001075760
RCV001098162
dbSNP Id:
rs570745701
ExAC:
1:94508360 G / A
gnomAD v2:
1-94508360-G-A
gnomAD v3:
1-94042804-G-A
gnomAD v4:
1-94042804-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94042804G>A , CM000663.2:g.94042804G>A | GRCh38 |
| NC_000001.10:g.94508360G>A , CM000663.1:g.94508360G>A | GRCh37 |
| NC_000001.9:g.94280948G>A | NCBI36 |
| NG_009073.1:g.83346C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3285C>T MANE Select | ENSP00000359245.3:p.Tyr1095= | |
| ENST00000370225.3:c.3285C>T | ENSP00000359245.3:p.Tyr1095= | |
| ENST00000536513.5:c.-64-2715C>T | ENSP00000439707.2:n.-64-2715C>T | |
| NM_000350.2:c.3285C>T | NP_000341.2:p.Tyr1095= | |
| NM_000350.3:c.3285C>T MANE Select | NP_000341.2:p.Tyr1095= |