Linked Data
ClinVar Variation Id:
376329
ClinVar RCV Id:
RCV000437633
dbSNP Id:
rs121913298
COSMIC:
COSM915
PubMed:
PMID:25157968
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48349012T>A , CM000675.2:g.48349012T>A | GRCh38 |
| NC_000013.10:g.48923148T>A , CM000675.1:g.48923148T>A | GRCh37 |
| NC_000013.9:g.47821149T>A | NCBI36 |
| NG_009009.1:g.50266T>A , LRG_517:g.50266T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.596T>A MANE Select | ENSP00000267163.4:p.Leu199Ter | |
| ENST00000650461.1:c.596T>A | ENSP00000497193.1:p.Leu199Ter | |
| ENST00000267163.4:c.596T>A | ENSP00000267163.4:p.Leu199Ter | |
| ENST00000467505.5:c.138-11005T>A | ENSP00000434702.1:n.138-11005T>A | |
| ENST00000525036.1:n.758T>A | ||
| NM_000321.2:c.596T>A , LRG_517t1:c.596T>A | NP_000312.2:p.Leu199Ter | |
| XM_011535171.1:c.335T>A | XP_011533473.1:p.Leu112Ter | |
| XM_011535171.2:c.335T>A | XP_011533473.1:p.Leu112Ter | |
| NM_000321.3:c.596T>A MANE Select | NP_000312.2:p.Leu199Ter |