Linked Data
ClinVar Variation Id:
16029
ClinVar RCV Id:
RCV000030913
dbSNP Id:
rs104893841
gnomAD v4:
4-67740526-A-T
PubMed:
PMID:10999776
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740526A>T , CM000666.2:g.67740526A>T | GRCh38 |
| NC_000004.11:g.68606244A>T , CM000666.1:g.68606244A>T | GRCh37 |
| NC_000004.10:g.68288839A>T | NCBI36 |
| NG_009293.1:g.20561T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000226413.5:c.941T>A MANE Select | ENSP00000226413.5:p.Leu314Ter | |
| ENST00000226413.4:c.941T>A | ENSP00000226413.4:p.Leu314Ter | |
| ENST00000420975.2:c.813T>A | ENSP00000397561.2:n.813T>A | |
| NM_000406.2:c.941T>A | NP_000397.1:p.Leu314Ter | |
| NM_001012763.1:c.*63T>A | NP_001012781.1:n.*63T>A | |
| NM_000406.3:c.941T>A MANE Select | NP_000397.1:p.Leu314Ter | |
| NM_001012763.2:c.*63T>A | NP_001012781.1:n.*63T>A |