Linked Data
dbSNP Id:
rs754729755
ExAC:
19:46270047 T / C
gnomAD v2:
19-46270047-T-C
gnomAD v3:
19-45766789-T-C
gnomAD v4:
19-45766789-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45766789T>C , CM000681.2:g.45766789T>C | GRCh38 |
| NC_000019.9:g.46270047T>C , CM000681.1:g.46270047T>C | GRCh37 |
| NC_000019.8:g.50961887T>C | NCBI36 |
| NG_012745.1:g.7451A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317578.7:c.1170A>G MANE Select | ENSP00000316842.4:p.Thr390= | |
| ENST00000317578.6:c.1170A>G | ENSP00000316842.4:p.Thr390= | |
| ENST00000560160.1:c.587-678A>G | ||
| ENST00000560168.1:c.*358A>G | ENSP00000453189.2:n.*358A>G | |
| ENST00000622857.1:c.16-827A>G | ENSP00000481365.1:n.16-827A>G | |
| NM_175875.4:c.1170A>G | NP_787071.2:p.Thr390= | |
| NM_175875.5:c.1170A>G MANE Select | NP_787071.3:p.Thr390= |