Linked Data
ClinVar Variation Id:
2012405
ClinVar RCV Id:
RCV002843092
gnomAD v4:
9-136504703-C-A
COSMIC:
COSM1155774
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136504703C>A , CM000671.2:g.136504703C>A | GRCh38 |
| NC_000009.11:g.139399155C>A , CM000671.1:g.139399155C>A | GRCh37 |
| NC_000009.10:g.138518976C>A | NCBI36 |
| NG_007458.1:g.46084G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2795G>T | ||
| ENST00000651671.1:c.4988G>T MANE Select | ENSP00000498587.1:p.Arg1663Leu | |
| ENST00000679595.1:c.4988G>T | ENSP00000506241.1:p.Arg1663Leu | |
| ENST00000680133.1:c.4874G>T | ENSP00000505319.1:p.Arg1625Leu | |
| ENST00000680218.1:c.4868G>T | ENSP00000505339.1:p.Arg1623Leu | |
| ENST00000680668.1:c.4874G>T | ENSP00000506336.1:p.Arg1625Leu | |
| ENST00000680778.1:c.2585G>T | ENSP00000506033.1:p.Arg862Leu | |
| ENST00000680924.1:c.*2388G>T | ENSP00000506031.1:n.*2388G>T | |
| ENST00000681135.1:c.*2597G>T | ENSP00000506636.1:n.*2597G>T | |
| ENST00000681298.1:n.1801G>T | ||
| ENST00000681454.1:c.*4224G>T | ENSP00000505763.1:n.*4224G>T | |
| ENST00000277541.6:c.4988G>T | ENSP00000277541.6:p.Arg1663Leu | |
| ENST00000494783.1:n.143G>T | ||
| NM_017617.3:c.4988G>T | NP_060087.3:p.Arg1663Leu | |
| XM_011518717.1:c.4289G>T | XP_011517019.1:p.Arg1430Leu | |
| NM_017617.5:c.4988G>T MANE Select | NP_060087.3:p.Arg1663Leu | |
| XM_011518717.2:c.4265G>T | XP_011517019.2:p.Arg1422Leu |