Linked Data
ClinVar Variation Id:
156332
ClinVar RCV Id:
RCV000144416
dbSNP Id:
rs281865414
gnomAD v3:
12-80460707-A-G
gnomAD v4:
12-80460707-A-G
PubMed:
PMID:20346435
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80460707A>G , CM000674.2:g.80460707A>G | GRCh38 |
| NC_000012.11:g.80849470T>C , CM000674.1:g.80849470T>C | GRCh37 |
| NC_000012.10:g.79373601T>C | NCBI36 |
| NG_034052.1:g.21362A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644991.3:c.715A>G MANE Select | ENSP00000495607.1:p.Arg239Gly | |
| ENST00000614701.4:c.715A>G | ENSP00000482885.1:p.Arg239Gly | |
| ENST00000616559.4:c.841A>G | ENSP00000483259.1:p.Arg281Gly | |
| NM_001145026.1:c.715A>G | NP_001138498.1:p.Arg239Gly | |
| XM_011538290.1:c.715A>G | XP_011536592.1:p.Arg239Gly | |
| XM_017019273.1:c.1381A>G | XP_016874762.1:p.Arg461Gly | |
| XM_017019274.1:c.1381A>G | XP_016874763.1:p.Arg461Gly | |
| XM_017019275.1:c.1381A>G | XP_016874764.1:p.Arg461Gly | |
| XR_001748688.1:n.1518A>G | ||
| XR_001748689.1:n.1518A>G | ||
| NM_001145026.2:c.715A>G MANE Select | NP_001138498.1:p.Arg239Gly |