Linked Data
ClinVar Variation Id:
406
ClinVar RCV Id:
RCV000000433
dbSNP Id:
rs587776512
PubMed:
PMID:1357662
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.71576031T>C , CM000678.2:g.71576031T>C | GRCh38 |
| NC_000016.9:g.71609934T>C , CM000678.1:g.71609934T>C | GRCh37 |
| NC_000016.8:g.70167435T>C | NCBI36 |
| NG_008235.1:g.6065A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355962.5:c.236-5A>G MANE Select | ENSP00000348234.4:n.236-5A>G | |
| ENST00000355962.4:c.236-5A>G | ENSP00000348234.4:n.236-5A>G | |
| ENST00000566010.1:n.481A>G | ||
| ENST00000566094.5:n.332-5A>G | ||
| NM_000353.2:c.236-5A>G | NP_000344.1:n.236-5A>G | |
| NM_000353.3:c.236-5A>G MANE Select | NP_000344.1:n.236-5A>G |