Linked Data
dbSNP Id:
rs754877043
ExAC:
10:124793971 G / A
gnomAD v2:
10-124793971-G-A
gnomAD v3:
10-123034455-G-A
gnomAD v4:
10-123034455-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.123034455G>A , CM000672.2:g.123034455G>A | GRCh38 |
| NC_000010.10:g.124793971G>A , CM000672.1:g.124793971G>A | GRCh37 |
| NC_000010.9:g.124783961G>A | NCBI36 |
| NG_008003.1:g.30543G>A , LRG_451:g.30543G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358776.7:c.142G>A MANE Select | ENSP00000357873.3:p.Gly48Arg | |
| ENST00000358776.6:c.142G>A | ENSP00000357873.3:p.Gly48Arg | |
| ENST00000368869.8:c.-64G>A | ENSP00000357862.4:n.-64G>A | |
| ENST00000411816.2:n.159G>A | ||
| NM_001609.3:c.142G>A , LRG_451t1:c.142G>A | NP_001600.1:p.Gly48Arg | |
| NM_001330174.1:c.-64G>A | NP_001317103.1:n.-64G>A | |
| NM_001330174.2:c.-64G>A | NP_001317103.1:n.-64G>A | |
| NM_001609.4:c.142G>A MANE Select | NP_001600.1:p.Gly48Arg | |
| NM_001330174.3:c.-64G>A | NP_001317103.1:n.-64G>A |