Linked Data
ClinVar Variation Id:
346908
dbSNP Id:
rs375770842
ExAC:
3:93699297 C / T
gnomAD v2:
3-93699297-C-T
gnomAD v3:
3-93980453-C-T
gnomAD v4:
3-93980453-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93980453C>T , CM000665.2:g.93980453C>T | GRCh38 |
| NC_000003.11:g.93699297C>T , CM000665.1:g.93699297C>T | GRCh37 |
| NC_000003.10:g.95181987C>T | NCBI36 |
| NG_017076.1:g.5315C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394222.8:c.30C>T MANE Select | ENSP00000377769.3:p.Gly10= | |
| ENST00000475206.3:n.125C>T | ||
| ENST00000486562.2:c.30C>T | ENSP00000505366.1:p.Gly10= | |
| ENST00000492165.3:n.312C>T | ||
| ENST00000679404.1:c.-325C>T | ENSP00000505252.1:n.-325C>T | |
| ENST00000679587.1:c.30C>T | ENSP00000505396.1:p.Gly10= | |
| ENST00000679601.1:c.30C>T | ENSP00000506200.1:p.Gly10= | |
| ENST00000679607.1:c.-527C>T | ENSP00000505148.1:n.-527C>T | |
| ENST00000679654.1:c.30C>T | ENSP00000505178.1:p.Gly10= | |
| ENST00000679657.1:c.-62C>T | ENSP00000505494.1:n.-62C>T | |
| ENST00000679666.1:c.-320C>T | ENSP00000506469.1:n.-320C>T | |
| ENST00000679739.1:c.-209C>T | ENSP00000506703.1:n.-209C>T | |
| ENST00000679872.1:c.-320C>T | ENSP00000505607.1:n.-320C>T | |
| ENST00000680414.1:c.30C>T | ENSP00000506063.1:p.Gly10= | |
| ENST00000680430.1:c.30C>T | ENSP00000504943.1:p.Gly10= | |
| ENST00000680994.1:n.310C>T | ||
| ENST00000681013.1:c.30C>T | ENSP00000506243.1:p.Gly10= | |
| ENST00000681247.1:c.30C>T | ENSP00000505168.1:p.Gly10= | |
| ENST00000681380.1:c.30C>T | ENSP00000505402.1:p.Gly10= | |
| ENST00000681655.1:c.-86C>T | ENSP00000505036.1:n.-86C>T | |
| ENST00000303097.11:c.30C>T | ENSP00000306225.7:p.Gly10= | |
| ENST00000335438.7:c.30C>T | ENSP00000335400.3:p.Gly10= | |
| ENST00000394222.7:c.30C>T | ENSP00000377769.3:p.Gly10= | |
| ENST00000460371.5:c.30C>T | ENSP00000417263.1:p.Gly10= | |
| ENST00000471138.5:c.30C>T | ENSP00000420780.1:p.Gly10= | |
| ENST00000475206.2:n.184C>T | ||
| ENST00000478400.3:n.312C>T | ||
| ENST00000486562.1:n.240C>T | ||
| ENST00000492165.2:n.166C>T | ||
| ENST00000535334.5:c.-209C>T | ENSP00000445145.1:n.-209C>T | |
| NM_001174150.1:c.30C>T | NP_001167621.1:p.Gly10= | |
| NM_001174151.1:c.-209C>T | NP_001167622.1:n.-209C>T | |
| NM_144996.3:c.30C>T | NP_659433.2:p.Gly10= | |
| NM_182896.2:c.30C>T | NP_878899.1:p.Gly10= | |
| NR_033427.1:n.315C>T | ||
| XM_006713531.2:c.-138C>T | XP_006713594.1:n.-138C>T | |
| XM_006713532.2:c.-153C>T | XP_006713595.1:n.-153C>T | |
| XM_011512532.1:c.-62C>T | XP_011510834.1:n.-62C>T | |
| XM_011512533.1:c.-102C>T | XP_011510835.1:n.-102C>T | |
| XM_011512534.1:c.-178C>T | XP_011510836.1:n.-178C>T | |
| XM_011512535.1:c.-86C>T | XP_011510837.1:n.-86C>T | |
| NM_001321328.1:c.-138C>T | NP_001308257.1:n.-138C>T | |
| NR_135621.1:n.315C>T | ||
| XM_006713532.3:c.-153C>T | XP_006713595.1:n.-153C>T | |
| XM_011512532.2:c.-62C>T | XP_011510834.1:n.-62C>T | |
| XM_011512533.2:c.-102C>T | XP_011510835.1:n.-102C>T | |
| XM_011512534.2:c.-178C>T | XP_011510836.1:n.-178C>T | |
| XM_011512535.2:c.-86C>T | XP_011510837.1:n.-86C>T | |
| XM_017005853.1:c.-337C>T | XP_016861342.1:n.-337C>T | |
| NM_001174150.2:c.30C>T MANE Select | NP_001167621.1:p.Gly10= | |
| NM_001321328.2:c.-138C>T | NP_001308257.1:n.-138C>T | |
| NM_144996.4:c.30C>T | NP_659433.2:p.Gly10= | |
| NM_182896.3:c.30C>T | NP_878899.1:p.Gly10= | |
| NR_033427.2:n.299C>T | ||
| NR_135621.2:n.299C>T | ||
| NM_001174151.2:c.-209C>T | NP_001167622.1:n.-209C>T |