Linked Data
ClinVar Variation Id:
161547
ClinVar RCV Id:
RCV000149082
dbSNP Id:
rs193921005
COSMIC:
COSM1178809
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57465251G>A , CM000674.2:g.57465251G>A | GRCh38 |
| NC_000012.11:g.57859034G>A , CM000674.1:g.57859034G>A | GRCh37 |
| NC_000012.10:g.56145301G>A | NCBI36 |
| NG_029564.1:g.10117G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228682.7:c.530G>A MANE Select | ENSP00000228682.2:p.Cys177Tyr | |
| ENST00000228682.6:c.530G>A | ENSP00000228682.2:p.Cys177Tyr | |
| ENST00000528467.1:c.407G>A | ENSP00000434408.1:p.Cys136Tyr | |
| ENST00000532291.5:c.146G>A | ENSP00000436671.1:p.Cys49Tyr | |
| ENST00000543426.5:c.146G>A | ENSP00000437607.1:p.Cys49Tyr | |
| ENST00000546141.5:c.407G>A | ENSP00000441006.1:p.Cys136Tyr | |
| NM_001160045.1:c.146G>A | NP_001153517.1:p.Cys49Tyr | |
| NM_001167609.1:c.407G>A | NP_001161081.1:p.Cys136Tyr | |
| NM_005269.2:c.530G>A | NP_005260.1:p.Cys177Tyr | |
| XM_005268799.2:c.146G>A | XP_005268856.1:p.Cys49Tyr | |
| XM_011538189.1:c.530G>A | XP_011536491.1:p.Cys177Tyr | |
| XM_011538190.1:c.530G>A | XP_011536492.1:p.Cys177Tyr | |
| XM_011538189.2:c.530G>A | XP_011536491.1:p.Cys177Tyr | |
| XM_011538190.2:c.530G>A | XP_011536492.1:p.Cys177Tyr | |
| NM_005269.3:c.530G>A MANE Select | NP_005260.1:p.Cys177Tyr | |
| NM_001160045.2:c.146G>A | NP_001153517.1:p.Cys49Tyr | |
| NM_001167609.2:c.407G>A | NP_001161081.1:p.Cys136Tyr |