Linked Data
ClinVar Variation Id:
331074
dbSNP Id:
rs114508982
ExAC:
2:128016983 C / T
gnomAD v2:
2-128016983-C-T
gnomAD v3:
2-127259407-C-T
gnomAD v4:
2-127259407-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127259407C>T , CM000664.2:g.127259407C>T | GRCh38 |
| NC_000002.11:g.128016983C>T , CM000664.1:g.128016983C>T | GRCh37 |
| NC_000002.10:g.127733453C>T | NCBI36 |
| NG_007454.1:g.39770G>A , LRG_462:g.39770G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285398.7:c.2106G>A MANE Select | ENSP00000285398.2:p.Ala702= | |
| ENST00000644317.1:c.*1595G>A | ENSP00000494012.1:n.*1595G>A | |
| ENST00000645233.1:c.*2318G>A | ENSP00000494116.1:n.*2318G>A | |
| ENST00000645467.1:c.*878G>A | ENSP00000494889.1:n.*878G>A | |
| ENST00000645736.1:c.1777G>A | ENSP00000494545.1:n.1777G>A | |
| ENST00000646042.1:n.2841G>A | ||
| ENST00000646654.1:c.*1573G>A | ENSP00000494526.1:n.*1573G>A | |
| ENST00000647169.1:c.2181G>A | ENSP00000495619.1:p.Ala727= | |
| ENST00000647496.1:c.396-1805G>A | ||
| ENST00000285398.6:c.2106G>A | ENSP00000285398.2:p.Ala702= | |
| ENST00000426778.5:c.*2087G>A | ENSP00000415335.1:n.*2087G>A | |
| ENST00000445889.5:c.*2149G>A | ENSP00000390888.1:n.*2149G>A | |
| ENST00000491292.5:n.3476G>A | ||
| NM_000122.1:c.2106G>A , LRG_462t1:c.2106G>A | NP_000113.1:p.Ala702= | |
| NM_001303416.1:c.1914G>A | NP_001290345.1:p.Ala638= | |
| NM_001303418.1:c.1914G>A | NP_001290347.1:p.Ala638= | |
| XM_011510794.1:c.2124G>A | XP_011509096.1:p.Ala708= | |
| XM_011510795.1:c.1668G>A | XP_011509097.1:p.Ala556= | |
| XM_011510794.2:c.2124G>A | XP_011509096.1:p.Ala708= | |
| XM_017003583.1:c.1650G>A | XP_016859072.1:p.Ala550= | |
| NM_000122.2:c.2106G>A MANE Select | NP_000113.1:p.Ala702= | |
| NM_001303416.2:c.1914G>A | NP_001290345.1:p.Ala638= | |
| NM_001303418.2:c.1914G>A | NP_001290347.1:p.Ala638= |