Linked Data
ClinVar Variation Id:
264999
dbSNP Id:
rs11891778
gnomAD v2:
2-215910574-G-A
gnomAD v4:
2-215045850-G-A
PubMed:
PMID:19664001
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215045850G>A , CM000664.2:g.215045850G>A | GRCh38 |
| NC_000002.11:g.215910574G>A , CM000664.1:g.215910574G>A | GRCh37 |
| NC_000002.10:g.215618819G>A | NCBI36 |
| NG_007074.1:g.97578C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.859C>T MANE Select | ENSP00000272895.7:p.Arg287Ter | |
| ENST00000272895.11:c.859C>T | ENSP00000272895.7:p.Arg287Ter | |
| NM_173076.2:c.859C>T | NP_775099.2:p.Arg287Ter | |
| NR_103740.1:n.1103C>T | ||
| XM_011510951.1:c.859C>T | XP_011509253.1:p.Arg287Ter | |
| XM_011510952.1:c.859C>T | XP_011509254.1:p.Arg287Ter | |
| XM_011510951.2:c.859C>T | XP_011509253.1:p.Arg287Ter | |
| NM_173076.3:c.859C>T MANE Select | NP_775099.2:p.Arg287Ter | |
| NR_103740.2:n.1301C>T |