Linked Data
ClinVar Variation Id:
284945
dbSNP Id:
rs780264754
ExAC:
17:48245751 C / G
gnomAD v2:
17-48245751-C-G
gnomAD v3:
17-50168390-C-G
gnomAD v4:
17-50168390-C-G
PubMed:
PMID:11475588
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50168390C>G , CM000679.2:g.50168390C>G | GRCh38 |
| NC_000017.10:g.48245751C>G , CM000679.1:g.48245751C>G | GRCh37 |
| NC_000017.9:g.45600750C>G | NCBI36 |
| NG_008889.1:g.7386C>G , LRG_203:g.7386C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504073.2:c.402C>G | ENSP00000422030.2:p.Tyr134Ter | |
| ENST00000511303.6:n.127C>G | ||
| ENST00000512526.2:c.393C>G | ENSP00000426606.2:n.393C>G | |
| ENST00000682109.1:c.282C>G | ENSP00000508041.1:p.Tyr94Ter | |
| ENST00000683226.1:n.112C>G | ||
| ENST00000683294.1:c.402C>G | ENSP00000508134.1:p.Tyr134Ter | |
| ENST00000262018.8:c.402C>G MANE Select | ENSP00000262018.3:p.Tyr134Ter | |
| ENST00000262018.7:c.402C>G | ENSP00000262018.3:p.Tyr134Ter | |
| ENST00000344627.10:c.402C>G | ENSP00000345522.6:p.Tyr134Ter | |
| ENST00000502555.5:c.*61C>G | ENSP00000422817.1:n.*61C>G | |
| ENST00000511303.5:c.123C>G | ENSP00000426104.1:p.Tyr41Ter | |
| ENST00000512526.1:c.237C>G | ||
| ENST00000513821.5:c.402C>G | ENSP00000426571.1:p.Tyr134Ter | |
| ENST00000513942.5:n.193C>G | ||
| ENST00000514934.1:c.*108C>G | ENSP00000423168.1:n.*108C>G | |
| NM_000023.2:c.402C>G , LRG_203t1:c.402C>G | NP_000014.1:p.Tyr134Ter | |
| NM_001135697.1:c.402C>G | NP_001129169.1:p.Tyr134Ter | |
| XM_011525120.1:c.402C>G | XP_011523422.1:p.Tyr134Ter | |
| XM_011525121.1:c.402C>G | XP_011523423.1:p.Tyr134Ter | |
| XM_011525122.1:c.402C>G | XP_011523424.1:p.Tyr134Ter | |
| XM_011525123.1:c.402C>G | XP_011523425.1:p.Tyr134Ter | |
| XM_011525124.1:c.96C>G | XP_011523426.1:p.Tyr32Ter | |
| XR_934517.1:n.468C>G | ||
| NM_000023.3:c.402C>G | NP_000014.1:p.Tyr134Ter | |
| NM_001135697.2:c.402C>G | NP_001129169.1:p.Tyr134Ter | |
| NR_135553.1:n.458C>G | ||
| XM_011525120.2:c.564C>G | XP_011523422.2:p.Tyr188Ter | |
| XM_011525121.2:c.564C>G | XP_011523423.2:p.Tyr188Ter | |
| XM_011525122.2:c.564C>G | XP_011523424.2:p.Tyr188Ter | |
| XM_011525123.2:c.564C>G | XP_011523425.2:p.Tyr188Ter | |
| XM_011525124.2:c.96C>G | XP_011523426.1:p.Tyr32Ter | |
| XM_024450873.1:c.96C>G | XP_024306641.1:p.Tyr32Ter | |
| XR_002958056.1:n.920C>G | ||
| NM_000023.4:c.402C>G MANE Select | NP_000014.1:p.Tyr134Ter | |
| NM_001135697.3:c.402C>G | NP_001129169.1:p.Tyr134Ter | |
| NR_135553.2:n.438C>G |