Linked Data
ClinVar Variation Id:
12099
ClinVar RCV Id:
RCV000012881
dbSNP Id:
rs121917782
ExAC:
16:67470167 C / T
gnomAD v2:
16-67470167-C-T
gnomAD v3:
16-67436264-C-T
gnomAD v4:
16-67436264-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436264C>T , CM000678.2:g.67436264C>T | GRCh38 |
| NC_000016.9:g.67470167C>T , CM000678.1:g.67470167C>T | GRCh37 |
| NC_000016.8:g.66027668C>T | NCBI36 |
| NG_011482.1:g.49923G>A | |
| NG_016549.1:g.10132C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.680C>T MANE Select | ENSP00000316786.5:p.Pro227Leu | |
| ENST00000326152.5:c.680C>T | ENSP00000316786.5:p.Pro227Leu | |
| NM_000196.3:c.680C>T | NP_000187.3:p.Pro227Leu | |
| NM_000196.4:c.680C>T MANE Select | NP_000187.3:p.Pro227Leu |