Linked Data
ClinVar Variation Id:
436112
dbSNP Id:
rs34644009
ExAC:
1:52841179 G / T
gnomAD v2:
1-52841179-G-T
gnomAD v3:
1-52375507-G-T
gnomAD v4:
1-52375507-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.52375507G>T , CM000663.2:g.52375507G>T | GRCh38 |
| NC_000001.10:g.52841179G>T , CM000663.1:g.52841179G>T | GRCh37 |
| NC_000001.9:g.52613767G>T | NCBI36 |
| NG_028251.1:g.33965C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371568.8:c.2226C>A MANE Select | ENSP00000360623.3:p.Ser742= | |
| ENST00000371566.1:c.2226C>A | ENSP00000360621.1:p.Ser742= | |
| ENST00000371568.7:c.2226C>A | ENSP00000360623.3:p.Ser742= | |
| NM_001190818.1:c.2226C>A | NP_001177747.1:p.Ser742= | |
| NM_001190819.1:c.2211C>A | NP_001177748.1:p.Ser737= | |
| NM_004153.3:c.2226C>A | NP_004144.2:p.Ser742= | |
| XM_011541527.1:c.1146C>A | XP_011539829.1:p.Ser382= | |
| XM_011541527.3:c.1146C>A | XP_011539829.1:p.Ser382= | |
| XM_017001388.2:c.2118C>A | XP_016856877.1:p.Ser706= | |
| XM_017001389.2:c.1488C>A | XP_016856878.1:p.Ser496= | |
| NM_004153.4:c.2226C>A MANE Select | NP_004144.2:p.Ser742= | |
| NM_001190818.2:c.2226C>A | NP_001177747.1:p.Ser742= | |
| NM_001190819.2:c.2211C>A | NP_001177748.1:p.Ser737= |