Linked Data
dbSNP Id:
rs200817146
gnomAD v2:
3-165503998-G-A
gnomAD v4:
3-165786210-G-A
COSMIC:
COSM1753002
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165786210G>A , CM000665.2:g.165786210G>A | GRCh38 |
| NC_000003.11:g.165503998G>A , CM000665.1:g.165503998G>A | GRCh37 |
| NC_000003.10:g.166986692G>A | NCBI36 |
| NG_009031.1:g.56256C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264381.8:c.1619C>T MANE Select | ENSP00000264381.3:p.Thr540Met | |
| ENST00000264381.7:c.1619C>T | ENSP00000264381.3:p.Thr540Met | |
| ENST00000479451.5:c.209C>T | ENSP00000418325.1:p.Thr70Met | |
| ENST00000482958.1:c.*125C>T | ENSP00000419804.1:n.*125C>T | |
| ENST00000488954.1:c.209C>T | ENSP00000418504.1:p.Thr70Met | |
| ENST00000497011.5:c.1619C>T | ENSP00000419505.1:p.Thr540Met | |
| NM_000055.2:c.1619C>T | NP_000046.1:p.Thr540Met | |
| XM_005247685.1:c.1742C>T | XP_005247742.1:p.Thr581Met | |
| NM_000055.3:c.1619C>T | NP_000046.1:p.Thr540Met | |
| NR_137635.1:n.261C>T | ||
| NR_137636.1:n.1786C>T | ||
| NM_000055.4:c.1619C>T MANE Select | NP_000046.1:p.Thr540Met | |
| NR_137635.2:n.212C>T | ||
| NR_137636.2:n.1737C>T |