Linked Data
ClinVar Variation Id:
450
dbSNP Id:
rs121908254
ExAC:
18:57134004 A / G
gnomAD v2:
18-57134004-A-G
gnomAD v3:
18-59466772-A-G
gnomAD v4:
18-59466772-A-G
PubMed:
PMID:19935664
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59466772A>G , CM000680.2:g.59466772A>G | GRCh38 |
| NC_000018.9:g.57134004A>G , CM000680.1:g.57134004A>G | GRCh37 |
| NC_000018.8:g.55284984A>G | NCBI36 |
| NG_016990.1:g.235641T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000589419.2:n.523T>C | ||
| ENST00000650467.2:c.520T>C | ENSP00000496897.2:p.Cys174Arg | |
| ENST00000695903.1:c.520T>C | ENSP00000512255.1:p.Cys174Arg | |
| ENST00000695904.1:c.520T>C | ENSP00000512259.1:p.Cys174Arg | |
| ENST00000439986.9:c.520T>C MANE Select | ENSP00000404464.2:p.Cys174Arg | |
| ENST00000649564.1:c.520T>C | ENSP00000497183.1:p.Cys174Arg | |
| ENST00000650467.1:c.398T>C | ||
| ENST00000398179.3:c.310T>C | ENSP00000381241.3:p.Cys104Arg | |
| ENST00000439986.8:c.520T>C | ENSP00000404464.2:p.Cys174Arg | |
| ENST00000589419.1:c.-54T>C | ENSP00000467710.1:n.-54T>C | |
| NM_133459.3:c.520T>C | NP_597716.1:p.Cys174Arg | |
| XM_005266648.2:c.520T>C | XP_005266705.1:p.Cys174Arg | |
| NM_133459.4:c.520T>C MANE Select | NP_597716.1:p.Cys174Arg | |
| XM_017025556.1:c.520T>C | XP_016881045.1:p.Cys174Arg | |
| XM_017025557.1:c.520T>C | XP_016881046.1:p.Cys174Arg | |
| XM_017025558.1:c.520T>C | XP_016881047.1:p.Cys174Arg | |
| XM_024451091.1:c.520T>C | XP_024306859.1:p.Cys174Arg | |
| XR_001753142.1:n.1359T>C |