Linked Data
ClinVar Variation Id:
242933
dbSNP Id:
rs879253769
gnomAD v3:
2-27055171-C-T
gnomAD v4:
2-27055171-C-T
PubMed:
PMID:26355662
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27055171C>T , CM000664.2:g.27055171C>T | GRCh38 |
| NC_000002.11:g.27278039C>T , CM000664.1:g.27278039C>T | GRCh37 |
| NC_000002.10:g.27131543C>T | NCBI36 |
| NG_052914.1:g.8749C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360131.5:c.826C>T MANE Select | ENSP00000353249.4:p.Arg276Trp | |
| ENST00000323064.12:c.826C>T | ENSP00000323681.8:p.Arg276Trp | |
| ENST00000360131.4:c.826C>T | ENSP00000353249.4:p.Arg276Trp | |
| ENST00000477136.5:n.998C>T | ||
| ENST00000487078.5:c.826C>T | ENSP00000433830.1:p.Arg276Trp | |
| ENST00000489683.5:n.985C>T | ||
| NM_001035507.2:c.826C>T | NP_001030584.1:p.Arg276Trp | |
| NM_021831.5:c.826C>T | NP_068603.4:p.Arg276Trp | |
| NR_104246.1:n.1043C>T | ||
| XM_005264477.2:c.826C>T | XP_005264534.1:p.Arg276Trp | |
| XM_006712058.1:c.826C>T | XP_006712121.1:p.Arg276Trp | |
| XM_011533011.1:c.826C>T | XP_011531313.1:p.Arg276Trp | |
| XM_011533012.1:c.826C>T | XP_011531314.1:p.Arg276Trp | |
| XM_011533013.1:c.826C>T | XP_011531315.1:p.Arg276Trp | |
| NR_138023.1:n.1004C>T | ||
| XM_005264477.3:c.826C>T | XP_005264534.1:p.Arg276Trp | |
| XM_011533011.3:c.826C>T | XP_011531313.1:p.Arg276Trp | |
| XM_011533012.2:c.826C>T | XP_011531314.1:p.Arg276Trp | |
| XM_011533013.2:c.826C>T | XP_011531315.1:p.Arg276Trp | |
| NM_021831.6:c.826C>T MANE Select | NP_068603.4:p.Arg276Trp | |
| NM_001035507.3:c.826C>T | NP_001030584.1:p.Arg276Trp | |
| NR_104246.2:n.998C>T | ||
| NR_138023.2:n.1004C>T |