Linked Data
ClinVar Variation Id:
2428746
ClinVar RCV Id:
RCV003120347
dbSNP Id:
rs1165288508
gnomAD v2:
16-226819-C-T
gnomAD v3:
16-176820-C-T
gnomAD v4:
16-176820-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176820C>T , CM000678.2:g.176820C>T | GRCh38 |
| NC_000016.9:g.226819C>T , CM000678.1:g.226819C>T | GRCh37 |
| NC_000016.8:g.166819C>T | NCBI36 |
| NG_000006.1:g.37683C>T | |
| NG_059186.1:g.5170C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.95+9C>T MANE Select | ENSP00000322421.5:n.95+9C>T | |
| ENST00000397797.1:c.-2+58C>T | ENSP00000380899.1:n.-2+58C>T | |
| ENST00000472694.1:n.123C>T | ||
| ENST00000487791.1:n.64+9C>T | ||
| NM_000558.4:c.95+9C>T | NP_000549.1:n.95+9C>T | |
| NM_000558.5:c.95+9C>T MANE Select | NP_000549.1:n.95+9C>T |