Linked Data
ClinVar Variation Id:
285625
ClinVar RCV Id:
RCV000326235
dbSNP Id:
rs148746475
ExAC:
6:32165201 G / A
gnomAD v2:
6-32165201-G-A
gnomAD v3:
6-32197424-G-A
gnomAD v4:
6-32197424-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32197424G>A , CM000668.2:g.32197424G>A | GRCh38 |
| NC_000006.11:g.32165201G>A , CM000668.1:g.32165201G>A | GRCh37 |
| NC_000006.10:g.32273179G>A | NCBI36 |
| NG_028190.1:g.31644C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375023.3:c.4927C>T MANE Select | ENSP00000364163.3:p.Arg1643Ter | |
| ENST00000474612.1:n.3588C>T | ||
| NM_004557.3:c.4927C>T | NP_004548.3:p.Arg1643Ter | |
| NR_134949.1:n.4635C>T | ||
| NR_134950.1:n.4533C>T | ||
| NM_004557.4:c.4927C>T MANE Select | NP_004548.3:p.Arg1643Ter | |
| NR_134949.2:n.4635C>T | ||
| NR_134950.2:n.4533C>T |