Linked Data
ClinVar Variation Id:
2182394
ClinVar RCV Id:
RCV002610828
dbSNP Id:
rs780088602
ExAC:
2:128016991 C / A
gnomAD v2:
2-128016991-C-A
gnomAD v4:
2-127259415-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127259415C>A , CM000664.2:g.127259415C>A | GRCh38 |
| NC_000002.11:g.128016991C>A , CM000664.1:g.128016991C>A | GRCh37 |
| NC_000002.10:g.127733461C>A | NCBI36 |
| NG_007454.1:g.39762G>T , LRG_462:g.39762G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285398.7:c.2098G>T MANE Select | ENSP00000285398.2:p.Asp700Tyr | |
| ENST00000644317.1:c.*1587G>T | ENSP00000494012.1:n.*1587G>T | |
| ENST00000645233.1:c.*2310G>T | ENSP00000494116.1:n.*2310G>T | |
| ENST00000645467.1:c.*870G>T | ENSP00000494889.1:n.*870G>T | |
| ENST00000645736.1:c.1769G>T | ENSP00000494545.1:n.1769G>T | |
| ENST00000646042.1:n.2833G>T | ||
| ENST00000646654.1:c.*1565G>T | ENSP00000494526.1:n.*1565G>T | |
| ENST00000647169.1:c.2173G>T | ENSP00000495619.1:p.Asp725Tyr | |
| ENST00000647496.1:c.396-1813G>T | ||
| ENST00000285398.6:c.2098G>T | ENSP00000285398.2:p.Asp700Tyr | |
| ENST00000426778.5:c.*2079G>T | ENSP00000415335.1:n.*2079G>T | |
| ENST00000445889.5:c.*2141G>T | ENSP00000390888.1:n.*2141G>T | |
| ENST00000491292.5:n.3468G>T | ||
| NM_000122.1:c.2098G>T , LRG_462t1:c.2098G>T | NP_000113.1:p.Asp700Tyr | |
| NM_001303416.1:c.1906G>T | NP_001290345.1:p.Asp636Tyr | |
| NM_001303418.1:c.1906G>T | NP_001290347.1:p.Asp636Tyr | |
| XM_011510794.1:c.2116G>T | XP_011509096.1:p.Asp706Tyr | |
| XM_011510795.1:c.1660G>T | XP_011509097.1:p.Asp554Tyr | |
| XM_011510794.2:c.2116G>T | XP_011509096.1:p.Asp706Tyr | |
| XM_017003583.1:c.1642G>T | XP_016859072.1:p.Asp548Tyr | |
| NM_000122.2:c.2098G>T MANE Select | NP_000113.1:p.Asp700Tyr | |
| NM_001303416.2:c.1906G>T | NP_001290345.1:p.Asp636Tyr | |
| NM_001303418.2:c.1906G>T | NP_001290347.1:p.Asp636Tyr |