Linked Data
ClinVar Variation Id:
5200
ClinVar RCV Id:
RCV000005510
dbSNP Id:
rs267606656
PubMed:
PMID:20358596
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716832A>G , CM000667.2:g.14716832A>G | GRCh38 |
| NC_000005.9:g.14716941A>G , CM000667.1:g.14716941A>G | GRCh37 |
| NC_000005.8:g.14769941A>G | NCBI36 |
| NG_008273.1:g.159947T>C | |
| NG_008273.2:g.159954T>C | |
| NG_051625.1:g.61039A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000284268.8:c.1015T>C MANE Select | ENSP00000284268.6:p.Cys339Arg | |
| ENST00000284268.6:c.1015T>C | ENSP00000284268.6:p.Cys339Arg | |
| ENST00000502585.1:n.257T>C | ||
| NM_054027.4:c.1015T>C | NP_473368.1:p.Cys339Arg | |
| NM_054027.5:c.1015T>C | NP_473368.1:p.Cys339Arg | |
| XM_017009644.2:c.931T>C | XP_016865133.1:p.Cys311Arg | |
| NM_054027.6:c.1015T>C MANE Select | NP_473368.1:p.Cys339Arg |