Linked Data
ClinVar Variation Id:
3214343
ClinVar RCV Id:
RCV004511715
dbSNP Id:
rs1459918074
gnomAD v2:
12-14659884-T-C
gnomAD v3:
12-14506950-T-C
gnomAD v4:
12-14506950-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14506950T>C , CM000674.2:g.14506950T>C | GRCh38 |
| NC_000012.11:g.14659884T>C , CM000674.1:g.14659884T>C | GRCh37 |
| NC_000012.10:g.14551151T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240617.10:c.1355A>G MANE Select | ENSP00000240617.5:p.Tyr452Cys | |
| ENST00000240617.9:c.1355A>G | ENSP00000240617.5:p.Tyr452Cys | |
| NM_024829.5:c.1355A>G | NP_079105.4:p.Tyr452Cys | |
| NM_024829.6:c.1355A>G MANE Select | NP_079105.4:p.Tyr452Cys |