Linked Data
ClinVar Variation Id:
1989816
ClinVar RCV Id:
RCV002800570
dbSNP Id:
rs201889635
gnomAD v4:
4-6300654-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6300654C>T , CM000666.2:g.6300654C>T | GRCh38 |
| NC_000004.11:g.6302381C>T , CM000666.1:g.6302381C>T | GRCh37 |
| NC_000004.10:g.6353282C>T | NCBI36 |
| NG_011700.1:g.35805C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.898-3C>T | ENSP00000507852.1:n.898-3C>T | |
| ENST00000683395.1:c.839-3C>T | ||
| ENST00000684087.1:c.862-3C>T | ENSP00000506978.1:n.862-3C>T | |
| ENST00000506362.2:c.613-3C>T | ENSP00000424103.2:n.613-3C>T | |
| ENST00000673642.1:c.661-143C>T | ENSP00000501242.1:n.661-143C>T | |
| ENST00000673991.1:c.898-3C>T | ENSP00000501033.1:n.898-3C>T | |
| ENST00000226760.5:c.862-3C>T MANE Select | ENSP00000226760.1:n.862-3C>T | |
| ENST00000503569.5:c.862-3C>T | ENSP00000423337.1:n.862-3C>T | |
| ENST00000506362.1:c.495-3C>T | ||
| ENST00000507765.1:n.1047-3C>T | ||
| ENST00000513395.1:n.420-3C>T | ||
| NM_001145853.1:c.862-3C>T | NP_001139325.1:n.862-3C>T | |
| NM_006005.3:c.862-3C>T MANE Select | NP_005996.2:n.862-3C>T | |
| XM_017008586.1:c.871-3C>T | XP_016864075.1:n.871-3C>T |