Linked Data
ClinVar Variation Id:
2877914
ClinVar RCV Id:
RCV003715208
dbSNP Id:
rs375910092
ExAC:
16:2328417 G / A
gnomAD v2:
16-2328417-G-A
gnomAD v3:
16-2278416-G-A
gnomAD v4:
16-2278416-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2278416G>A , CM000678.2:g.2278416G>A | GRCh38 |
| NC_000016.9:g.2328417G>A , CM000678.1:g.2328417G>A | GRCh37 |
| NC_000016.8:g.2268418G>A | NCBI36 |
| NG_011790.1:g.67331C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.4590C>T MANE Select | ENSP00000301732.5:p.Ile1530= | |
| ENST00000301732.9:c.4590C>T | ENSP00000301732.5:p.Ile1530= | |
| ENST00000382381.7:c.4416C>T | ENSP00000371818.3:p.Ile1472= | |
| ENST00000566200.1:n.1111C>T | ||
| NM_001089.2:c.4590C>T | NP_001080.2:p.Ile1530= | |
| NM_001089.3:c.4590C>T MANE Select | NP_001080.2:p.Ile1530= |