Linked Data
dbSNP Id:
rs774356916
ExAC:
3:165503997 C / T
gnomAD v2:
3-165503997-C-T
gnomAD v3:
3-165786209-C-T
gnomAD v4:
3-165786209-C-T
COSMIC:
COSM4114997
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165786209C>T , CM000665.2:g.165786209C>T | GRCh38 |
| NC_000003.11:g.165503997C>T , CM000665.1:g.165503997C>T | GRCh37 |
| NC_000003.10:g.166986691C>T | NCBI36 |
| NG_009031.1:g.56257G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264381.8:c.1620G>A MANE Select | ENSP00000264381.3:p.Thr540= | |
| ENST00000264381.7:c.1620G>A | ENSP00000264381.3:p.Thr540= | |
| ENST00000479451.5:c.210G>A | ENSP00000418325.1:p.Thr70= | |
| ENST00000482958.1:c.*126G>A | ENSP00000419804.1:n.*126G>A | |
| ENST00000488954.1:c.210G>A | ENSP00000418504.1:p.Thr70= | |
| ENST00000497011.5:c.1620G>A | ENSP00000419505.1:p.Thr540= | |
| NM_000055.2:c.1620G>A | NP_000046.1:p.Thr540= | |
| XM_005247685.1:c.1743G>A | XP_005247742.1:p.Thr581= | |
| NM_000055.3:c.1620G>A | NP_000046.1:p.Thr540= | |
| NR_137635.1:n.262G>A | ||
| NR_137636.1:n.1787G>A | ||
| NM_000055.4:c.1620G>A MANE Select | NP_000046.1:p.Thr540= | |
| NR_137635.2:n.213G>A | ||
| NR_137636.2:n.1738G>A |