Linked Data
ClinVar Variation Id:
2975479
ClinVar RCV Id:
RCV003831085
dbSNP Id:
rs199979965
ExAC:
10:79741207 G / A
gnomAD v2:
10-79741207-G-A
gnomAD v3:
10-77981449-G-A
gnomAD v4:
10-77981449-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.77981449G>A , CM000672.2:g.77981449G>A | GRCh38 |
| NC_000010.10:g.79741207G>A , CM000672.1:g.79741207G>A | GRCh37 |
| NC_000010.9:g.79411213G>A | NCBI36 |
| NG_029648.1:g.53092C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698724.1:n.1787C>T | ||
| ENST00000698725.1:n.386C>T | ||
| ENST00000698726.1:n.3100C>T | ||
| ENST00000698727.1:n.2833C>T | ||
| ENST00000698728.1:n.3449C>T | ||
| ENST00000698729.1:n.4897C>T | ||
| ENST00000698730.1:n.4995C>T | ||
| ENST00000698731.1:c.3729C>T | ENSP00000513898.1:p.Leu1243= | |
| ENST00000698732.1:c.*2559C>T | ENSP00000513899.1:n.*2559C>T | |
| ENST00000698733.1:c.*3057C>T | ENSP00000513900.1:n.*3057C>T | |
| ENST00000698734.1:c.*2043C>T | ENSP00000513901.1:n.*2043C>T | |
| ENST00000698735.1:n.4221C>T | ||
| ENST00000698736.1:n.4634C>T | ||
| ENST00000698737.1:n.3985C>T | ||
| ENST00000372371.8:c.3870C>T MANE Select | ENSP00000361446.3:p.Leu1290= | |
| ENST00000372371.7:c.3870C>T | ENSP00000361446.3:p.Leu1290= | |
| ENST00000616246.4:c.318C>T | ENSP00000483738.1:p.Leu106= | |
| NM_007055.3:c.3870C>T | NP_008986.2:p.Leu1290= | |
| NM_007055.4:c.3870C>T MANE Select | NP_008986.2:p.Leu1290= |