Linked Data
ClinVar Variation Id:
486427
dbSNP Id:
rs761996626
gnomAD v3:
1-17053986-G-A
gnomAD v4:
1-17053986-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17053986G>A , CM000663.2:g.17053986G>A | GRCh38 |
| NC_000001.10:g.17380481G>A , CM000663.1:g.17380481G>A | GRCh37 |
| NC_000001.9:g.17253068G>A | NCBI36 |
| NG_012340.1:g.5185C>T , LRG_316:g.5185C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375499.8:c.34C>T MANE Select | ENSP00000364649.3:p.Arg12Trp | |
| ENST00000375499.7:c.34C>T | ENSP00000364649.3:p.Arg12Trp | |
| ENST00000466613.2:n.46C>T | ||
| ENST00000485515.5:n.22C>T | ||
| NM_003000.2:c.34C>T , LRG_316t1:c.34C>T | NP_002991.2:p.Arg12Trp | |
| NM_003000.3:c.34C>T MANE Select | NP_002991.2:p.Arg12Trp |