Linked Data
ClinVar Variation Id:
228604
dbSNP Id:
rs143210369
ExAC:
14:50100273 T / C
gnomAD v2:
14-50100273-T-C
gnomAD v3:
14-49633555-T-C
gnomAD v4:
14-49633555-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49633555T>C , CM000676.2:g.49633555T>C | GRCh38 |
| NC_000014.8:g.50100273T>C , CM000676.1:g.50100273T>C | GRCh37 |
| NC_000014.7:g.49170023T>C | NCBI36 |
| NG_013070.1:g.6676A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298292.13:c.1595A>G MANE Select | ENSP00000298292.8:p.Glu532Gly | |
| ENST00000298292.12:c.1595A>G | ENSP00000298292.8:p.Glu532Gly | |
| ENST00000406043.3:c.1595A>G | ENSP00000384862.3:p.Glu532Gly | |
| NM_001083908.1:c.1595A>G | NP_001077377.1:p.Glu532Gly | |
| NM_018139.2:c.1595A>G | NP_060609.2:p.Glu532Gly | |
| NM_001083908.2:c.1595A>G | NP_001077377.1:p.Glu532Gly | |
| NM_001378453.1:c.-277A>G | NP_001365382.1:n.-277A>G | |
| NM_018139.3:c.1595A>G MANE Select | NP_060609.2:p.Glu532Gly |