Linked Data
ClinVar Variation Id:
5673
ClinVar RCV Id:
RCV000006027
dbSNP Id:
rs121908518
PubMed:
PMID:15248095
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32145004C>G , CM000664.2:g.32145004C>G | GRCh38 |
| NC_000002.11:g.32370073C>G , CM000664.1:g.32370073C>G | GRCh37 |
| NC_000002.10:g.32223577C>G | NCBI36 |
| NG_008730.1:g.86394C>G , LRG_714:g.86394C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.*1344C>G | ENSP00000515816.1:n.*1344C>G | |
| ENST00000315285.9:c.1684C>G MANE Select | ENSP00000320885.3:p.Arg562Gly | |
| ENST00000621856.2:c.1681C>G | ENSP00000482496.2:p.Arg561Gly | |
| ENST00000642281.1:c.1421C>G | ||
| ENST00000642455.1:c.1585C>G | ENSP00000493827.1:p.Arg529Gly | |
| ENST00000642751.1:c.1390+1589C>G | ||
| ENST00000642999.1:c.1426C>G | ENSP00000496589.1:p.Arg476Gly | |
| ENST00000643334.1:c.1264C>G | ||
| ENST00000644408.1:c.1560C>G | ||
| ENST00000644954.1:c.1330C>G | ENSP00000494312.1:p.Arg444Gly | |
| ENST00000645159.1:n.2421C>G | ||
| ENST00000645671.1:c.1066+1589C>G | ||
| ENST00000645730.1:c.863C>G | ||
| ENST00000646082.1:c.1330C>G | ||
| ENST00000646571.1:c.1588C>G | ENSP00000495015.1:p.Arg530Gly | |
| ENST00000647007.1:n.1376C>G | ||
| ENST00000647133.1:c.1184C>G | ||
| ENST00000315285.7:c.1684C>G | ENSP00000320885.3:p.Arg562Gly | |
| ENST00000345662.5:c.1588C>G | ENSP00000340817.1:p.Arg530Gly | |
| ENST00000615843.4:c.1684C>G | ENSP00000480893.1:p.Arg562Gly | |
| ENST00000621856.1:c.1426C>G | ENSP00000482496.1:p.Arg476Gly | |
| NM_014946.3:c.1684C>G , LRG_714t1:c.1684C>G | NP_055761.2:p.Arg562Gly | |
| NM_199436.1:c.1588C>G | NP_955468.1:p.Arg530Gly | |
| XM_005264516.3:c.1681C>G | XP_005264573.1:p.Arg561Gly | |
| XM_011533067.1:c.1616+1589C>G | XP_011531369.1:n.1616+1589C>G | |
| NM_001363823.1:c.1681C>G | NP_001350752.1:p.Arg561Gly | |
| NM_001363875.1:c.1585C>G | NP_001350804.1:p.Arg529Gly | |
| XM_005264516.5:c.1681C>G | XP_005264573.1:p.Arg561Gly | |
| XM_011533067.2:c.1616+1589C>G | XP_011531369.1:n.1616+1589C>G | |
| XM_017004778.2:c.1520+1589C>G | XP_016860267.1:n.1520+1589C>G | |
| NM_001363823.2:c.1681C>G | NP_001350752.1:p.Arg561Gly | |
| NM_001363875.2:c.1585C>G | NP_001350804.1:p.Arg529Gly | |
| NM_001377959.1:c.1520+1589C>G | NP_001364888.1:n.1520+1589C>G | |
| NM_014946.4:c.1684C>G MANE Select | NP_055761.2:p.Arg562Gly | |
| NM_199436.2:c.1588C>G | NP_955468.1:p.Arg530Gly |