Linked Data
dbSNP Id:
rs139680845
ExAC:
1:9324326 G / T
gnomAD v2:
1-9324326-G-T
gnomAD v4:
1-9264267-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.9264267G>T , CM000663.2:g.9264267G>T | GRCh38 |
| NC_000001.10:g.9324326G>T , CM000663.1:g.9324326G>T | GRCh37 |
| NC_000001.9:g.9246913G>T | NCBI36 |
| NG_012218.1:g.34464G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377403.7:c.1774G>T MANE Select | ENSP00000366620.2:p.Gly592Cys | |
| ENST00000377403.6:c.1774G>T | ENSP00000366620.1:p.Gly592Cys | |
| ENST00000602477.1:c.1807G>T | ENSP00000473348.1:p.Gly603Cys | |
| NM_001282587.1:c.1807G>T | NP_001269516.1:p.Gly603Cys | |
| NM_004285.3:c.1774G>T | NP_004276.2:p.Gly592Cys | |
| XM_005263539.3:c.1807G>T | XP_005263596.1:p.Gly603Cys | |
| XM_005263540.3:c.1801G>T | XP_005263597.1:p.Gly601Cys | |
| XM_006711052.2:c.1774G>T | XP_006711115.1:p.Gly592Cys | |
| XM_011542446.1:c.1774G>T | XP_011540748.1:p.Gly592Cys | |
| XM_005263540.5:c.1801G>T | XP_005263597.1:p.Gly601Cys | |
| XM_006711052.4:c.1774G>T | XP_006711115.1:p.Gly592Cys | |
| XM_017002865.2:c.1774G>T | XP_016858354.1:p.Gly592Cys | |
| XM_017002866.2:c.706G>T | XP_016858355.1:p.Gly236Cys | |
| NM_001282587.2:c.1807G>T | NP_001269516.1:p.Gly603Cys | |
| NM_004285.4:c.1774G>T MANE Select | NP_004276.2:p.Gly592Cys |