Linked Data
dbSNP Id:
rs374499560
ExAC:
3:165503989 C / T
gnomAD v2:
3-165503989-C-T
gnomAD v3:
3-165786201-C-T
gnomAD v4:
3-165786201-C-T
COSMIC:
COSM3202977
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165786201C>T , CM000665.2:g.165786201C>T | GRCh38 |
| NC_000003.11:g.165503989C>T , CM000665.1:g.165503989C>T | GRCh37 |
| NC_000003.10:g.166986683C>T | NCBI36 |
| NG_009031.1:g.56265G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264381.8:c.1628G>A MANE Select | ENSP00000264381.3:p.Arg543His | |
| ENST00000264381.7:c.1628G>A | ENSP00000264381.3:p.Arg543His | |
| ENST00000479451.5:c.218G>A | ENSP00000418325.1:p.Arg73His | |
| ENST00000482958.1:c.*134G>A | ENSP00000419804.1:n.*134G>A | |
| ENST00000488954.1:c.218G>A | ENSP00000418504.1:p.Arg73His | |
| ENST00000497011.5:c.1628G>A | ENSP00000419505.1:p.Arg543His | |
| NM_000055.2:c.1628G>A | NP_000046.1:p.Arg543His | |
| XM_005247685.1:c.1751G>A | XP_005247742.1:p.Arg584His | |
| NM_000055.3:c.1628G>A | NP_000046.1:p.Arg543His | |
| NR_137635.1:n.270G>A | ||
| NR_137636.1:n.1795G>A | ||
| NM_000055.4:c.1628G>A MANE Select | NP_000046.1:p.Arg543His | |
| NR_137635.2:n.221G>A | ||
| NR_137636.2:n.1746G>A |