Linked Data
ClinVar Variation Id:
1999761
ClinVar RCV Id:
RCV002819839
dbSNP Id:
rs771409952
ExAC:
8:19797008 C / G
gnomAD v2:
8-19797008-C-G
gnomAD v3:
8-19939497-C-G
gnomAD v4:
8-19939497-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19939497C>G , CM000670.2:g.19939497C>G | GRCh38 |
| NC_000008.10:g.19797008C>G , CM000670.1:g.19797008C>G | GRCh37 |
| NC_000008.9:g.19841288C>G | NCBI36 |
| NG_008855.1:g.5427C>G | |
| NG_008855.2:g.42781C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.57C>G MANE Select | ENSP00000497642.1:p.Thr19= | |
| ENST00000311322.8:c.57C>G | ENSP00000309757.6:p.Thr19= | |
| ENST00000519773.1:c.57C>G | ENSP00000431028.1:p.Thr19= | |
| ENST00000520959.5:c.-140-8683C>G | ENSP00000428496.1:n.-140-8683C>G | |
| ENST00000521994.1:n.242C>G | ||
| ENST00000522701.5:c.57C>G | ENSP00000428557.1:p.Thr19= | |
| ENST00000523696.1:n.126C>G | ||
| ENST00000524029.5:c.57C>G | ENSP00000428237.1:p.Thr19= | |
| NM_000237.2:c.57C>G | NP_000228.1:p.Thr19= | |
| NM_000237.3:c.57C>G MANE Select | NP_000228.1:p.Thr19= |