Linked Data
ClinVar Variation Id:
50907
ClinVar RCV Id:
RCV000043622
dbSNP Id:
rs397514701
gnomAD v4:
2-69044779-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.69044779C>T , CM000664.2:g.69044779C>T | GRCh38 |
| NC_000002.11:g.69271911C>T , CM000664.1:g.69271911C>T | GRCh37 |
| NC_000002.10:g.69125415C>T | NCBI36 |
| NG_012649.1:g.36636C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303714.9:c.262C>T MANE Select | ENSP00000301945.4:p.Arg88Ter | |
| ENST00000463335.2:c.262C>T | ENSP00000506719.1:p.Arg88Ter | |
| ENST00000481119.2:n.586C>T | ||
| ENST00000482235.2:c.262C>T | ENSP00000430776.2:p.Arg88Ter | |
| ENST00000679548.1:c.105C>T | ||
| ENST00000681568.1:n.405C>T | ||
| ENST00000681816.1:c.262C>T | ENSP00000505171.1:p.Arg88Ter | |
| ENST00000303714.8:c.262C>T | ENSP00000301945.4:p.Arg88Ter | |
| ENST00000409349.7:c.262C>T | ENSP00000386494.3:p.Arg88Ter | |
| ENST00000409829.7:c.262C>T | ENSP00000387058.3:p.Arg88Ter | |
| ENST00000463335.1:n.405C>T | ||
| NM_018153.3:c.262C>T | NP_060623.2:p.Arg88Ter | |
| NM_032208.2:c.262C>T | NP_115584.1:p.Arg88Ter | |
| NM_053034.2:c.262C>T | NP_444262.1:p.Arg88Ter | |
| XM_011533124.1:c.262C>T | XP_011531426.1:p.Arg88Ter | |
| XR_939725.1:n.409C>T | ||
| XR_939726.1:n.409C>T | ||
| XM_017005075.2:c.262C>T | XP_016860564.1:p.Arg88Ter | |
| XM_017005076.2:c.262C>T | XP_016860565.1:p.Arg88Ter | |
| XM_017005077.2:c.262C>T | XP_016860566.1:p.Arg88Ter | |
| NM_032208.3:c.262C>T MANE Select | NP_115584.1:p.Arg88Ter |