Linked Data
ClinVar Variation Id:
48176
dbSNP Id:
rs139954767
ExAC:
2:26703827 G / A
gnomAD v2:
2-26703827-G-A
gnomAD v3:
2-26480959-G-A
gnomAD v4:
2-26480959-G-A
PubMed:
PMID:27068579
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26480959G>A , CM000664.2:g.26480959G>A | GRCh38 |
| NC_000002.11:g.26703827G>A , CM000664.1:g.26703827G>A | GRCh37 |
| NC_000002.10:g.26557331G>A | NCBI36 |
| NG_009937.1:g.82740C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.1630C>T MANE Select | ENSP00000272371.2:p.Arg544Cys | |
| ENST00000272371.6:c.1630C>T | ENSP00000272371.2:p.Arg544Cys | |
| ENST00000403946.7:c.1630C>T | ENSP00000385255.3:p.Arg544Cys | |
| NM_001287489.1:c.1630C>T | NP_001274418.1:p.Arg544Cys | |
| NM_194248.2:c.1630C>T | NP_919224.1:p.Arg544Cys | |
| XM_005264644.2:c.1675C>T | XP_005264701.1:p.Arg559Cys | |
| XM_011533185.1:c.1675C>T | XP_011531487.1:p.Arg559Cys | |
| XM_017005338.1:c.1630C>T | XP_016860827.1:p.Arg544Cys | |
| NM_001287489.2:c.1630C>T | NP_001274418.1:p.Arg544Cys | |
| NM_194248.3:c.1630C>T MANE Select | NP_919224.1:p.Arg544Cys |