Linked Data
ClinVar Variation Id:
9822
ClinVar RCV Id:
RCV000010496
dbSNP Id:
rs137852564
PubMed:
PMID:8446106
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67722976G>T , CM000685.2:g.67722976G>T | GRCh38 |
| NC_000023.10:g.66942818G>T , CM000685.1:g.66942818G>T | GRCh37 |
| NC_000023.9:g.66859543G>T | NCBI36 |
| NG_009014.2:g.183945G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396043.4:c.*947G>T | ENSP00000379358.4:n.*947G>T | |
| ENST00000374690.9:c.2599G>T MANE Select | ENSP00000363822.3:p.Val867Leu | |
| ENST00000396043.3:c.1226G>T | ENSP00000379358.3:n.1226G>T | |
| ENST00000396044.8:c.2174-710G>T | ENSP00000379359.3:n.2174-710G>T | |
| ENST00000612452.5:c.2599G>T | ENSP00000484033.2:p.Val867Leu | |
| ENST00000374690.7:c.2599G>T | ENSP00000363822.3:p.Val867Leu | |
| ENST00000396043.2:c.1003G>T | ENSP00000379358.2:p.Val335Leu | |
| ENST00000396044.7:c.2174-710G>T | ENSP00000379359.3:n.2174-710G>T | |
| ENST00000612452.4:c.2050G>T | ENSP00000484033.1:p.Val684Leu | |
| NM_000044.3:c.2599G>T | NP_000035.2:p.Val867Leu | |
| NM_001011645.2:c.1003G>T | NP_001011645.1:p.Val335Leu | |
| NM_000044.4:c.2599G>T | NP_000035.2:p.Val867Leu | |
| NM_001011645.3:c.1003G>T | NP_001011645.1:p.Val335Leu | |
| NM_000044.6:c.2599G>T MANE Select | NP_000035.2:p.Val867Leu |