Linked Data
ClinVar Variation Id:
306633
dbSNP Id:
rs138984845
ExAC:
12:100796485 G / A
gnomAD v2:
12-100796485-G-A
gnomAD v3:
12-100402707-G-A
gnomAD v4:
12-100402707-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.100402707G>A , CM000674.2:g.100402707G>A | GRCh38 |
| NC_000012.11:g.100796485G>A , CM000674.1:g.100796485G>A | GRCh37 |
| NC_000012.10:g.99320616G>A | NCBI36 |
| NG_021175.1:g.50629G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323346.10:c.1015G>A MANE Select | ENSP00000316909.4:p.Ala339Thr | |
| ENST00000323346.9:c.1015G>A | ENSP00000316909.4:p.Ala339Thr | |
| ENST00000392989.3:c.903+228G>A | ENSP00000376715.3:n.903+228G>A | |
| ENST00000547922.1:n.90G>A | ||
| NM_001145288.1:c.903+228G>A | NP_001138760.1:n.903+228G>A | |
| NM_139319.2:c.1015G>A | NP_647480.1:p.Ala339Thr | |
| NM_001145288.2:c.903+228G>A | NP_001138760.1:n.903+228G>A | |
| NM_139319.3:c.1015G>A MANE Select | NP_647480.1:p.Ala339Thr |