Linked Data
ClinVar Variation Id:
357698
dbSNP Id:
rs886061671
gnomAD v2:
6-64776222-A-G
gnomAD v4:
6-64066329-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.64066329A>G , CM000668.2:g.64066329A>G | GRCh38 |
| NC_000006.11:g.64776222A>G , CM000668.1:g.64776222A>G | GRCh37 |
| NC_000006.10:g.64834181A>G | NCBI36 |
| NG_023443.1:g.1645897T>C | |
| NG_023443.2:g.1645897T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503581.6:c.6725+9T>C MANE Select | ENSP00000424243.1:n.6725+9T>C | |
| ENST00000370616.6:c.6725+9T>C | ENSP00000359650.2:n.6725+9T>C | |
| ENST00000370618.7:c.6725+9T>C | ENSP00000359652.4:n.6725+9T>C | |
| ENST00000370621.7:c.6725+9T>C | ENSP00000359655.3:n.6725+9T>C | |
| ENST00000398580.3:c.39+9T>C | ||
| ENST00000503581.5:c.6725+9T>C | ENSP00000424243.1:n.6725+9T>C | |
| NM_001142800.1:c.6725+9T>C | NP_001136272.1:n.6725+9T>C | |
| NM_001292009.1:c.6725+9T>C | NP_001278938.1:n.6725+9T>C | |
| NM_001142800.2:c.6725+9T>C MANE Select | NP_001136272.1:n.6725+9T>C | |
| NM_001292009.2:c.6725+9T>C | NP_001278938.1:n.6725+9T>C |