Linked Data
ClinVar Variation Id:
9017
ClinVar RCV Id:
RCV000009583
dbSNP Id:
rs104893907
PubMed:
PMID:16896344
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173232776A>T , CM000667.2:g.173232776A>T | GRCh38 |
| NC_000005.9:g.172659779A>T , CM000667.1:g.172659779A>T | GRCh37 |
| NC_000005.8:g.172592385A>T | NCBI36 |
| NG_013340.1:g.7537T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000329198.5:c.768T>A MANE Select | ENSP00000327758.4:p.Tyr256Ter | |
| ENST00000329198.4:c.768T>A | ENSP00000327758.4:p.Tyr256Ter | |
| NM_001166175.1:c.*721T>A | NP_001159647.1:n.*721T>A | |
| NM_001166176.1:c.*567T>A | NP_001159648.1:n.*567T>A | |
| NM_004387.3:c.768T>A | NP_004378.1:p.Tyr256Ter | |
| NM_004387.4:c.768T>A MANE Select | NP_004378.1:p.Tyr256Ter | |
| NM_001166175.2:c.*721T>A | NP_001159647.1:n.*721T>A | |
| NM_001166176.2:c.*567T>A | NP_001159648.1:n.*567T>A |