Linked Data
ClinVar Variation Id:
713757
ClinVar RCV Id:
RCV000885948
dbSNP Id:
rs61740352
ExAC:
11:56432093 A / T
gnomAD v2:
11-56432093-A-T
gnomAD v3:
11-56664617-A-T
gnomAD v4:
11-56664617-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.56664617A>T , CM000673.2:g.56664617A>T | GRCh38 |
| NC_000011.9:g.56432093A>T , CM000673.1:g.56432093A>T | GRCh37 |
| NC_000011.8:g.56188669A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624596.2:c.932A>T MANE Select | ENSP00000485240.1:p.Ter311Leu | |
| ENST00000302969.2:c.932A>T | ENSP00000302639.2:p.Ter311Leu | |
| ENST00000624596.1:c.932A>T | ENSP00000485240.1:p.Ter311Leu | |
| ENST00000625024.1:c.932A>T | ENSP00000485424.1:p.Ter311Leu | |
| NM_001004730.1:c.932A>T MANE Select | NP_001004730.1:p.Ter311Leu |