Linked Data
ClinVar Variation Id:
206716
dbSNP Id:
rs149474488
ExAC:
4:77084514 G / A
gnomAD v2:
4-77084514-G-A
gnomAD v3:
4-76163361-G-A
gnomAD v4:
4-76163361-G-A
COSMIC:
COSM2832056
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.76163361G>A , CM000666.2:g.76163361G>A | GRCh38 |
| NC_000004.11:g.77084514G>A , CM000666.1:g.77084514G>A | GRCh37 |
| NC_000004.10:g.77303538G>A | NCBI36 |
| NG_012054.1:g.55522C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682785.1:n.1238C>T | ||
| ENST00000264896.8:c.1262C>T MANE Select | ENSP00000264896.2:p.Thr421Met | |
| ENST00000511129.2:n.638C>T | ||
| ENST00000638295.1:c.788C>T | ENSP00000492288.1:p.Thr263Met | |
| ENST00000638372.1:n.4380C>T | ||
| ENST00000638603.1:c.1142C>T | ENSP00000491728.1:p.Thr381Met | |
| ENST00000638663.1:c.*44C>T | ENSP00000491407.1:n.*44C>T | |
| ENST00000638680.1:n.2843C>T | ||
| ENST00000639145.1:c.1253C>T | ENSP00000492831.1:p.Thr418Met | |
| ENST00000639300.1:c.*549C>T | ENSP00000492840.1:n.*549C>T | |
| ENST00000639715.1:c.1217C>T | ||
| ENST00000639738.1:c.350C>T | ENSP00000491792.1:p.Thr117Met | |
| ENST00000640341.1:c.*902C>T | ENSP00000492714.1:n.*902C>T | |
| ENST00000640634.1:c.1383C>T | ||
| ENST00000640640.1:c.1262C>T | ENSP00000492246.1:p.Thr421Met | |
| ENST00000640880.1:c.75C>T | ||
| ENST00000640900.1:n.97C>T | ||
| ENST00000640957.1:c.1262C>T | ENSP00000492004.1:p.Thr421Met | |
| ENST00000264896.6:c.1262C>T | ENSP00000264896.2:p.Thr421Met | |
| ENST00000452464.6:c.833C>T | ENSP00000399154.2:p.Thr278Met | |
| ENST00000511129.1:n.638C>T | ||
| NM_001204255.1:c.833C>T | NP_001191184.1:p.Thr278Met | |
| NM_005506.3:c.1262C>T | NP_005497.1:p.Thr421Met | |
| NM_005506.4:c.1262C>T MANE Select | NP_005497.1:p.Thr421Met | |
| NM_001204255.2:c.833C>T | NP_001191184.1:p.Thr278Met |