Linked Data
ClinVar Variation Id:
16535
ClinVar RCV Id:
RCV000018000
dbSNP Id:
rs121913074
PubMed:
PMID:11380452
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6224808T>C , CM000668.2:g.6224808T>C | GRCh38 |
| NC_000006.11:g.6225041T>C , CM000668.1:g.6225041T>C | GRCh37 |
| NC_000006.10:g.6170040T>C | NCBI36 |
| NG_008107.1:g.100884A>G , LRG_549:g.100884A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264870.8:c.851A>G MANE Select | ENSP00000264870.3:p.Tyr284Cys | |
| ENST00000264870.7:c.851A>G | ENSP00000264870.3:p.Tyr284Cys | |
| ENST00000445223.1:c.1A>G | ||
| NM_000129.3:c.851A>G , LRG_549t1:c.851A>G | NP_000120.2:p.Tyr284Cys | |
| XM_006715010.2:c.851A>G | XP_006715073.1:p.Tyr284Cys | |
| XM_011514342.1:c.1013A>G | XP_011512644.1:p.Tyr338Cys | |
| NM_000129.4:c.851A>G MANE Select | NP_000120.2:p.Tyr284Cys |