Linked Data
ClinVar Variation Id:
3132
dbSNP Id:
rs120074188
ExAC:
11:2790132 G / A
gnomAD v2:
11-2790132-G-A
gnomAD v4:
11-2768902-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2768902G>A , CM000673.2:g.2768902G>A | GRCh38 |
| NC_000011.9:g.2790132G>A , CM000673.1:g.2790132G>A | GRCh37 |
| NC_000011.8:g.2746708G>A | NCBI36 |
| NG_008935.1:g.328912G>A , LRG_287:g.328912G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.1216G>A | ENSP00000434560.2:p.Ala406Thr | |
| ENST00000646564.2:c.1033G>A | ENSP00000495806.2:p.Ala345Thr | |
| ENST00000155840.12:c.1573G>A MANE Select | ENSP00000155840.2:p.Ala525Thr | |
| ENST00000335475.6:c.1192G>A | ENSP00000334497.5:p.Ala398Thr | |
| ENST00000646564.1:c.679G>A | ENSP00000495806.1:p.Ala227Thr | |
| ENST00000155840.9:c.1573G>A | ENSP00000155840.2:p.Ala525Thr | |
| ENST00000335475.5:c.1192G>A | ENSP00000334497.5:p.Ala398Thr | |
| NM_000218.2:c.1573G>A , LRG_287t1:c.1573G>A | NP_000209.2:p.Ala525Thr | |
| NM_181798.1:c.1192G>A , LRG_287t2:c.1192G>A | NP_861463.1:p.Ala398Thr | |
| NM_000218.3:c.1573G>A MANE Select | NP_000209.2:p.Ala525Thr |