Linked Data
ClinVar Variation Id:
206406
ClinVar RCV Id:
RCV000188450
dbSNP Id:
rs767645983
ExAC:
19:50365140 T / G
gnomAD v3:
19-49861883-T-G
gnomAD v4:
19-49861883-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49861883T>G , CM000681.2:g.49861883T>G | GRCh38 |
| NC_000019.9:g.50365140T>G , CM000681.1:g.50365140T>G | GRCh37 |
| NC_000019.8:g.55056952T>G | NCBI36 |
| NG_027717.1:g.10683A>C | |
| NG_050666.1:g.18040T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322344.8:c.1189-2A>C MANE Select | ENSP00000323511.2:n.1189-2A>C | |
| ENST00000322344.7:c.1189-2A>C | ENSP00000323511.2:n.1189-2A>C | |
| ENST00000593706.3:n.783A>C | ||
| ENST00000593946.5:c.*1116-2A>C | ENSP00000468896.1:n.*1116-2A>C | |
| ENST00000594661.5:n.1690-2A>C | ||
| ENST00000595081.5:n.14A>C | ||
| ENST00000596014.5:c.1189-2A>C | ENSP00000472300.1:n.1189-2A>C | |
| ENST00000599454.5:n.33-2A>C | ||
| ENST00000600573.5:c.1096-2A>C | ENSP00000469826.1:n.1096-2A>C | |
| ENST00000600910.5:c.1188+161A>C | ENSP00000473137.1:n.1188+161A>C | |
| ENST00000601816.3:n.88-2A>C | ||
| ENST00000625216.2:c.270-2A>C | ENSP00000486898.1:n.270-2A>C | |
| ENST00000627232.2:c.1109-2A>C | ENSP00000486037.1:n.1109-2A>C | |
| ENST00000631020.2:c.1081-2A>C | ENSP00000486707.1:n.1081-2A>C | |
| NM_007254.3:c.1189-2A>C | NP_009185.2:n.1189-2A>C | |
| NM_007254.4:c.1189-2A>C MANE Select | NP_009185.2:n.1189-2A>C |