Linked Data
dbSNP Id:
rs561023947
ExAC:
1:115226942 C / T
gnomAD v2:
1-115226942-C-T
gnomAD v3:
1-114684321-C-T
gnomAD v4:
1-114684321-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114684321C>T , CM000663.2:g.114684321C>T | GRCh38 |
| NC_000001.10:g.115226942C>T , CM000663.1:g.115226942C>T | GRCh37 |
| NC_000001.9:g.115028465C>T | NCBI36 |
| NG_008012.1:g.16235G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.413G>A | ENSP00000358551.4:p.Arg138Gln | |
| ENST00000520113.7:c.425G>A MANE Select | ENSP00000430075.3:p.Arg142Gln | |
| ENST00000637080.1:c.428G>A | ENSP00000489753.1:p.Arg143Gln | |
| ENST00000639077.1:n.90G>A | ||
| ENST00000369538.3:c.512G>A | ENSP00000358551.3:p.Arg171Gln | |
| ENST00000485564.3:n.299G>A | ||
| ENST00000520113.6:c.524G>A | ENSP00000430075.2:p.Arg175Gln | |
| NM_000036.2:c.524G>A | NP_000027.2:p.Arg175Gln | |
| NM_001172626.1:c.512G>A | NP_001166097.1:p.Arg171Gln | |
| NM_000036.3:c.425G>A MANE Select | NP_000027.3:p.Arg142Gln | |
| NM_001172626.2:c.413G>A | NP_001166097.2:p.Arg138Gln |