Linked Data
ClinVar Variation Id:
2839233
ClinVar RCV Id:
RCV003723361
dbSNP Id:
rs768008346
ExAC:
4:6293102 G / C
gnomAD v2:
4-6293102-G-C
gnomAD v4:
4-6291375-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6291375G>C , CM000666.2:g.6291375G>C | GRCh38 |
| NC_000004.11:g.6293102G>C , CM000666.1:g.6293102G>C | GRCh37 |
| NC_000004.10:g.6344003G>C | NCBI36 |
| NG_011700.1:g.26526G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.631+8G>C | ENSP00000507852.1:n.631+8G>C | |
| ENST00000683395.1:c.608+21G>C | ||
| ENST00000684087.1:c.631+8G>C | ENSP00000506978.1:n.631+8G>C | |
| ENST00000684700.1:c.639G>C | ENSP00000507806.1:p.Arg213Ser | |
| ENST00000506362.2:c.382+8G>C | ENSP00000424103.2:n.382+8G>C | |
| ENST00000673642.1:c.430+8G>C | ENSP00000501242.1:n.430+8G>C | |
| ENST00000673991.1:c.631+8G>C | ENSP00000501033.1:n.631+8G>C | |
| ENST00000226760.5:c.631+8G>C MANE Select | ENSP00000226760.1:n.631+8G>C | |
| ENST00000503569.5:c.631+8G>C | ENSP00000423337.1:n.631+8G>C | |
| ENST00000506362.1:c.228+8G>C | ||
| ENST00000507765.1:n.816+8G>C | ||
| NM_001145853.1:c.631+8G>C | NP_001139325.1:n.631+8G>C | |
| NM_006005.3:c.631+8G>C MANE Select | NP_005996.2:n.631+8G>C | |
| XM_017008586.1:c.640+8G>C | XP_016864075.1:n.640+8G>C |