Linked Data
ClinVar Variation Id:
417768
dbSNP Id:
rs1050411259
gnomAD v2:
6-24278309-A-T
gnomAD v4:
6-24278081-A-T
PubMed:
PMID:27469900
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24278081A>T , CM000668.2:g.24278081A>T | GRCh38 |
| NC_000006.11:g.24278309A>T , CM000668.1:g.24278309A>T | GRCh37 |
| NC_000006.10:g.24386288A>T | NCBI36 |
| NG_012829.1:g.84972T>A | |
| NG_012829.2:g.110212T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.890T>A MANE Select | ENSP00000367715.3:p.Leu297Ter | |
| ENST00000378454.7:c.890T>A | ENSP00000367715.3:p.Leu297Ter | |
| NM_001195610.1:c.890T>A | NP_001182539.1:p.Leu297Ter | |
| NM_016356.4:c.890T>A | NP_057440.2:p.Leu297Ter | |
| NM_016356.5:c.890T>A MANE Select | NP_057440.2:p.Leu297Ter | |
| NM_001195610.2:c.890T>A | NP_001182539.1:p.Leu297Ter |