Linked Data
ClinVar Variation Id:
537392
ClinVar RCV Id:
RCV002060757
dbSNP Id:
rs771039137
ExAC:
6:1611869 C / T
gnomAD v2:
6-1611869-C-T
gnomAD v3:
6-1611634-C-T
gnomAD v4:
6-1611634-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1611634C>T , CM000668.2:g.1611634C>T | GRCh38 |
| NC_000006.11:g.1611869C>T , CM000668.1:g.1611869C>T | GRCh37 |
| NC_000006.10:g.1556868C>T | NCBI36 |
| NG_009368.1:g.6189C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.1189C>T MANE Select | ENSP00000493906.1:p.Leu397= | |
| ENST00000380874.3:c.1189C>T | ENSP00000370256.2:p.Leu397= | |
| NM_001453.2:c.1189C>T | NP_001444.2:p.Leu397= | |
| NM_001453.3:c.1189C>T MANE Select | NP_001444.2:p.Leu397= |