Linked Data
ClinVar Variation Id:
13242
dbSNP Id:
rs121918520
ExAC:
19:11559732 C / G
gnomAD v2:
19-11559732-C-G
gnomAD v4:
19-11448917-C-G
PubMed:
PMID:12529853
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11448917C>G , CM000681.2:g.11448917C>G | GRCh38 |
| NC_000019.9:g.11559732C>G , CM000681.1:g.11559732C>G | GRCh37 |
| NC_000019.8:g.11420732C>G | NCBI36 |
| NG_009300.1:g.18464C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000591462.6:c.1260C>G | ENSP00000465489.1:p.Tyr420Ter | |
| ENST00000677123.1:c.1290C>G MANE Select | ENSP00000503163.1:p.Tyr430Ter | |
| ENST00000586486.1:c.285C>G | ENSP00000465948.1:p.Tyr95Ter | |
| ENST00000587290.5:n.452C>G | ||
| ENST00000587327.5:c.1260C>G | ENSP00000466012.1:p.Tyr420Ter | |
| ENST00000589838.5:c.1269C>G | ENSP00000465461.1:p.Tyr423Ter | |
| ENST00000590098.1:n.636C>G | ||
| ENST00000591462.5:c.1260C>G | ENSP00000465489.1:p.Tyr420Ter | |
| ENST00000592435.1:n.97C>G | ||
| ENST00000592741.5:c.1290C>G | ENSP00000466134.1:p.Tyr430Ter | |
| NM_001001329.2:c.1260C>G | NP_001001329.1:p.Tyr420Ter | |
| NM_001289102.1:c.1260C>G | NP_001276031.1:p.Tyr420Ter | |
| NM_001289103.1:c.1290C>G | NP_001276032.1:p.Tyr430Ter | |
| NM_001289104.1:c.1290C>G | NP_001276033.1:p.Tyr430Ter | |
| NM_002743.3:c.1269C>G | NP_002734.2:p.Tyr423Ter | |
| XM_011528130.1:c.1290C>G | XP_011526432.1:p.Tyr430Ter | |
| XM_011528131.1:c.1269C>G | XP_011526433.1:p.Tyr423Ter | |
| XM_011528132.1:c.1260C>G | XP_011526434.1:p.Tyr420Ter | |
| XM_017026977.2:c.1269C>G | XP_016882466.1:p.Tyr423Ter | |
| XM_024451602.1:c.1260C>G | XP_024307370.1:p.Tyr420Ter | |
| NM_001001329.3:c.1260C>G | NP_001001329.1:p.Tyr420Ter | |
| NM_001289102.2:c.1260C>G | NP_001276031.1:p.Tyr420Ter | |
| NM_001289103.2:c.1290C>G | NP_001276032.1:p.Tyr430Ter | |
| NM_001289104.2:c.1290C>G MANE Select | NP_001276033.1:p.Tyr430Ter | |
| NM_001379608.1:c.1269C>G | NP_001366537.1:p.Tyr423Ter | |
| NM_001379609.1:c.1260C>G | NP_001366538.1:p.Tyr420Ter |