Linked Data
ClinVar Variation Id:
46518
dbSNP Id:
rs6089088
ExAC:
20:30414621 C / T
gnomAD v2:
20-30414621-C-T
gnomAD v3:
20-31826818-C-T
gnomAD v4:
20-31826818-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.31826818C>T , CM000682.2:g.31826818C>T | GRCh38 |
| NC_000020.10:g.30414621C>T , CM000682.1:g.30414621C>T | GRCh37 |
| NC_000020.9:g.29878282C>T | NCBI36 |
| NG_012847.1:g.12444C>T , LRG_392:g.12444C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375985.5:c.1104C>T MANE Select | ENSP00000365152.4:p.Phe368= | |
| ENST00000375985.4:c.1104C>T | ENSP00000365152.4:p.Phe368= | |
| ENST00000375994.6:c.1104C>T | ENSP00000365162.2:p.Phe368= | |
| ENST00000468730.1:n.42C>T | ||
| NM_033118.3:c.1104C>T , LRG_392t1:c.1104C>T | NP_149109.1:p.Phe368= | |
| XR_244155.1:n.1755C>T | ||
| NM_033118.4:c.1104C>T MANE Select | NP_149109.1:p.Phe368= |