Linked Data
ClinVar Variation Id:
60754
ClinVar RCV Id:
RCV000054527
dbSNP Id:
rs786200944
gnomAD v4:
4-13376553-G-A
PubMed:
PMID:23746546
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.13376553G>A , CM000666.2:g.13376553G>A | GRCh38 |
| NC_000004.11:g.13378177G>A , CM000666.1:g.13378177G>A | GRCh37 |
| NC_000004.10:g.12987275G>A | NCBI36 |
| NG_033891.1:g.112813C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288723.9:c.565C>T MANE Plus Clinical | ENSP00000288723.4:p.Gln189Ter | |
| ENST00000330852.10:c.565C>T MANE Select | ENSP00000328551.5:p.Gln189Ter | |
| ENST00000288723.8:c.565C>T | ENSP00000288723.4:p.Gln189Ter | |
| ENST00000330852.9:c.565C>T | ENSP00000328551.5:p.Gln189Ter | |
| ENST00000338176.8:c.565C>T | ENSP00000340079.4:p.Gln189Ter | |
| ENST00000504644.1:c.174C>T | ||
| ENST00000508274.5:c.*147C>T | ENSP00000424043.1:n.*147C>T | |
| ENST00000511649.5:c.332C>T | ||
| ENST00000630951.1:c.*147C>T | ENSP00000485808.1:n.*147C>T | |
| NM_001017979.2:c.565C>T | NP_001017979.1:p.Gln189Ter | |
| NM_001159601.1:c.565C>T | NP_001153073.1:p.Gln189Ter | |
| NM_004249.3:c.565C>T | NP_004240.2:p.Gln189Ter | |
| XM_005248215.3:c.565C>T | XP_005248272.1:p.Gln189Ter | |
| XM_011513911.1:c.565C>T | XP_011512213.1:p.Gln189Ter | |
| XM_011513912.1:c.334C>T | XP_011512214.1:p.Gln112Ter | |
| XR_925360.1:n.780C>T | ||
| XR_925361.1:n.780C>T | ||
| NM_001017979.3:c.565C>T MANE Select | NP_001017979.1:p.Gln189Ter | |
| NM_004249.4:c.565C>T MANE Plus Clinical | NP_004240.2:p.Gln189Ter | |
| NM_001159601.2:c.565C>T | NP_001153073.1:p.Gln189Ter |