Linked Data
ClinVar Variation Id:
789482
ClinVar RCV Id:
RCV000972121
dbSNP Id:
rs2229701
ExAC:
11:48146522 G / A
gnomAD v2:
11-48146522-G-A
gnomAD v3:
11-48124970-G-A
gnomAD v4:
11-48124970-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.48124970G>A , CM000673.2:g.48124970G>A | GRCh38 |
| NC_000011.9:g.48146522G>A , CM000673.1:g.48146522G>A | GRCh37 |
| NC_000011.8:g.48103098G>A | NCBI36 |
| NG_012209.1:g.149413G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698881.1:c.1219G>A | ENSP00000514003.1:p.Ala407Thr | |
| ENST00000418331.7:c.877G>A MANE Select | ENSP00000400010.2:p.Ala293Thr | |
| ENST00000418331.6:c.877G>A | ENSP00000400010.2:p.Ala293Thr | |
| ENST00000440289.6:c.877G>A | ENSP00000409733.2:p.Ala293Thr | |
| ENST00000613246.4:c.877G>A | ENSP00000477933.1:p.Ala293Thr | |
| ENST00000615445.4:c.877G>A | ENSP00000479342.1:p.Ala293Thr | |
| NM_001098503.1:c.877G>A | NP_001091973.1:p.Ala293Thr | |
| NM_002843.3:c.877G>A | NP_002834.3:p.Ala293Thr | |
| XM_011520249.1:c.910G>A | XP_011518551.1:p.Ala304Thr | |
| XR_930883.1:n.1227G>A | ||
| XM_017018083.1:c.955G>A | XP_016873572.1:p.Ala319Thr | |
| XM_017018084.1:c.898G>A | XP_016873573.1:p.Ala300Thr | |
| XM_017018085.1:c.829G>A | XP_016873574.1:p.Ala277Thr | |
| XR_930883.2:n.1286G>A | ||
| NM_002843.4:c.877G>A MANE Select | NP_002834.3:p.Ala293Thr | |
| NM_001098503.2:c.877G>A | NP_001091973.1:p.Ala293Thr |