Linked Data
ClinVar Variation Id:
813891
ClinVar RCV Id:
RCV001004859
dbSNP Id:
rs1403101337
gnomAD v4:
6-18122079-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18122079G>C , CM000668.2:g.18122079G>C | GRCh38 |
| NC_000006.11:g.18122310G>C , CM000668.1:g.18122310G>C | GRCh37 |
| NC_000006.10:g.18230289G>C | NCBI36 |
| NG_016750.1:g.5542C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340650.6:c.528C>G MANE Select | ENSP00000345464.3:p.Tyr176Ter | |
| ENST00000340650.4:c.528C>G | ENSP00000345464.3:p.Tyr176Ter | |
| NM_198586.2:c.528C>G | NP_940988.2:p.Tyr176Ter | |
| NM_198586.3:c.528C>G MANE Select | NP_940988.2:p.Tyr176Ter |