Linked Data
ClinVar Variation Id:
447
ClinVar RCV Id:
RCV000000476
dbSNP Id:
rs121908252
PubMed:
PMID:19935664
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59438119C>G , CM000680.2:g.59438119C>G | GRCh38 |
| NC_000018.9:g.57105351C>G , CM000680.1:g.57105351C>G | GRCh37 |
| NC_000018.8:g.55256331C>G | NCBI36 |
| NG_016990.1:g.264294G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000589419.2:n.982G>C | ||
| ENST00000650467.2:c.757G>C | ENSP00000496897.2:p.Gly253Arg | |
| ENST00000695903.1:c.1092G>C | ENSP00000512255.1:p.Glu364Asp | |
| ENST00000695904.1:c.1092G>C | ENSP00000512259.1:p.Glu364Asp | |
| ENST00000439986.9:c.979G>C MANE Select | ENSP00000404464.2:p.Gly327Arg | |
| ENST00000589116.2:n.687G>C | ||
| ENST00000649564.1:c.979G>C | ENSP00000497183.1:p.Gly327Arg | |
| ENST00000650467.1:c.635G>C | ||
| ENST00000398179.3:c.769G>C | ENSP00000381241.3:p.Gly257Arg | |
| ENST00000439986.8:c.979G>C | ENSP00000404464.2:p.Gly327Arg | |
| ENST00000589116.1:n.687G>C | ||
| NM_133459.3:c.979G>C | NP_597716.1:p.Gly327Arg | |
| XM_005266648.2:c.979G>C | XP_005266705.1:p.Gly327Arg | |
| NM_133459.4:c.979G>C MANE Select | NP_597716.1:p.Gly327Arg | |
| XM_017025556.1:c.1092G>C | XP_016881045.1:p.Glu364Asp | |
| XM_017025557.1:c.1092G>C | XP_016881046.1:p.Glu364Asp | |
| XM_017025558.1:c.979G>C | XP_016881047.1:p.Gly327Arg | |
| XM_024451091.1:c.979G>C | XP_024306859.1:p.Gly327Arg | |
| XR_001753142.1:n.1931G>C |