Linked Data
ClinVar Variation Id:
331082
dbSNP Id:
rs371396764
ExAC:
2:128044466 G / A
gnomAD v2:
2-128044466-G-A
gnomAD v3:
2-127286890-G-A
gnomAD v4:
2-127286890-G-A
COSMIC:
COSM1006175
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127286890G>A , CM000664.2:g.127286890G>A | GRCh38 |
| NC_000002.11:g.128044466G>A , CM000664.1:g.128044466G>A | GRCh37 |
| NC_000002.10:g.127760936G>A | NCBI36 |
| NG_007454.1:g.12287C>T , LRG_462:g.12287C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285398.7:c.1155C>T MANE Select | ENSP00000285398.2:p.Asp385= | |
| ENST00000644317.1:c.*644C>T | ENSP00000494012.1:n.*644C>T | |
| ENST00000645233.1:c.*1367C>T | ENSP00000494116.1:n.*1367C>T | |
| ENST00000645467.1:c.1155C>T | ENSP00000494889.1:p.Asp385= | |
| ENST00000645736.1:c.1011C>T | ENSP00000494545.1:p.Asp337= | |
| ENST00000646042.1:n.1890C>T | ||
| ENST00000646654.1:c.*622C>T | ENSP00000494526.1:n.*622C>T | |
| ENST00000647169.1:c.1155C>T | ENSP00000495619.1:p.Asp385= | |
| ENST00000647496.1:c.395+2447C>T | ||
| ENST00000285398.6:c.1155C>T | ENSP00000285398.2:p.Asp385= | |
| ENST00000426778.5:c.*1136C>T | ENSP00000415335.1:n.*1136C>T | |
| ENST00000445889.5:c.*1198C>T | ENSP00000390888.1:n.*1198C>T | |
| ENST00000494464.5:n.1226C>T | ||
| NM_000122.1:c.1155C>T , LRG_462t1:c.1155C>T | NP_000113.1:p.Asp385= | |
| NM_001303416.1:c.963C>T | NP_001290345.1:p.Asp321= | |
| NM_001303418.1:c.963C>T | NP_001290347.1:p.Asp321= | |
| XM_011510794.1:c.1173C>T | XP_011509096.1:p.Asp391= | |
| XM_011510795.1:c.717C>T | XP_011509097.1:p.Asp239= | |
| XM_011510794.2:c.1173C>T | XP_011509096.1:p.Asp391= | |
| XM_017003583.1:c.699C>T | XP_016859072.1:p.Asp233= | |
| NM_000122.2:c.1155C>T MANE Select | NP_000113.1:p.Asp385= | |
| NM_001303416.2:c.963C>T | NP_001290345.1:p.Asp321= | |
| NM_001303418.2:c.963C>T | NP_001290347.1:p.Asp321= |