Linked Data
ClinVar Variation Id:
448449
dbSNP Id:
rs121908518
gnomAD v4:
2-32145004-C-T
PubMed:
PMID:10699187
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32145004C>T , CM000664.2:g.32145004C>T | GRCh38 |
| NC_000002.11:g.32370073C>T , CM000664.1:g.32370073C>T | GRCh37 |
| NC_000002.10:g.32223577C>T | NCBI36 |
| NG_008730.1:g.86394C>T , LRG_714:g.86394C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.*1344C>T | ENSP00000515816.1:n.*1344C>T | |
| ENST00000315285.9:c.1684C>T MANE Select | ENSP00000320885.3:p.Arg562Ter | |
| ENST00000621856.2:c.1681C>T | ENSP00000482496.2:p.Arg561Ter | |
| ENST00000642281.1:c.1421C>T | ||
| ENST00000642455.1:c.1585C>T | ENSP00000493827.1:p.Arg529Ter | |
| ENST00000642751.1:c.1390+1589C>T | ||
| ENST00000642999.1:c.1426C>T | ENSP00000496589.1:p.Arg476Ter | |
| ENST00000643334.1:c.1264C>T | ||
| ENST00000644408.1:c.1560C>T | ||
| ENST00000644954.1:c.1330C>T | ENSP00000494312.1:p.Arg444Ter | |
| ENST00000645159.1:n.2421C>T | ||
| ENST00000645671.1:c.1066+1589C>T | ||
| ENST00000645730.1:c.863C>T | ||
| ENST00000646082.1:c.1330C>T | ||
| ENST00000646571.1:c.1588C>T | ENSP00000495015.1:p.Arg530Ter | |
| ENST00000647007.1:n.1376C>T | ||
| ENST00000647133.1:c.1184C>T | ||
| ENST00000315285.7:c.1684C>T | ENSP00000320885.3:p.Arg562Ter | |
| ENST00000345662.5:c.1588C>T | ENSP00000340817.1:p.Arg530Ter | |
| ENST00000615843.4:c.1684C>T | ENSP00000480893.1:p.Arg562Ter | |
| ENST00000621856.1:c.1426C>T | ENSP00000482496.1:p.Arg476Ter | |
| NM_014946.3:c.1684C>T , LRG_714t1:c.1684C>T | NP_055761.2:p.Arg562Ter | |
| NM_199436.1:c.1588C>T | NP_955468.1:p.Arg530Ter | |
| XM_005264516.3:c.1681C>T | XP_005264573.1:p.Arg561Ter | |
| XM_011533067.1:c.1616+1589C>T | XP_011531369.1:n.1616+1589C>T | |
| NM_001363823.1:c.1681C>T | NP_001350752.1:p.Arg561Ter | |
| NM_001363875.1:c.1585C>T | NP_001350804.1:p.Arg529Ter | |
| XM_005264516.5:c.1681C>T | XP_005264573.1:p.Arg561Ter | |
| XM_011533067.2:c.1616+1589C>T | XP_011531369.1:n.1616+1589C>T | |
| XM_017004778.2:c.1520+1589C>T | XP_016860267.1:n.1520+1589C>T | |
| NM_001363823.2:c.1681C>T | NP_001350752.1:p.Arg561Ter | |
| NM_001363875.2:c.1585C>T | NP_001350804.1:p.Arg529Ter | |
| NM_001377959.1:c.1520+1589C>T | NP_001364888.1:n.1520+1589C>T | |
| NM_014946.4:c.1684C>T MANE Select | NP_055761.2:p.Arg562Ter | |
| NM_199436.2:c.1588C>T | NP_955468.1:p.Arg530Ter |