Linked Data
ClinVar Variation Id:
379741
dbSNP Id:
rs373173586
ExAC:
3:93758719 G / A
gnomAD v2:
3-93758719-G-A
gnomAD v3:
3-94039875-G-A
gnomAD v4:
3-94039875-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.94039875G>A , CM000665.2:g.94039875G>A | GRCh38 |
| NC_000003.11:g.93758719G>A , CM000665.1:g.93758719G>A | GRCh37 |
| NC_000003.10:g.95241409G>A | NCBI36 |
| NG_017076.1:g.64737G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394222.8:c.690-5G>A MANE Select | ENSP00000377769.3:n.690-5G>A | |
| ENST00000486562.2:c.369-5G>A | ENSP00000505366.1:n.369-5G>A | |
| ENST00000679404.1:c.615-5G>A | ENSP00000505252.1:n.615-5G>A | |
| ENST00000679587.1:c.690-5G>A | ENSP00000505396.1:n.690-5G>A | |
| ENST00000679601.1:c.*542-5G>A | ENSP00000506200.1:n.*542-5G>A | |
| ENST00000679607.1:c.-148-5G>A | ENSP00000505148.1:n.-148-5G>A | |
| ENST00000679654.1:c.*298-5G>A | ENSP00000505178.1:n.*298-5G>A | |
| ENST00000679657.1:c.-32-9531G>A | ENSP00000505494.1:n.-32-9531G>A | |
| ENST00000679666.1:c.318-5G>A | ENSP00000506469.1:n.318-5G>A | |
| ENST00000679739.1:c.*98-5G>A | ENSP00000506703.1:n.*98-5G>A | |
| ENST00000679872.1:c.639-5G>A | ENSP00000505607.1:n.639-5G>A | |
| ENST00000680414.1:c.*436-5G>A | ENSP00000506063.1:n.*436-5G>A | |
| ENST00000680430.1:c.939-5G>A | ENSP00000504943.1:n.939-5G>A | |
| ENST00000680994.1:n.720-5G>A | ||
| ENST00000681013.1:c.*98-5G>A | ENSP00000506243.1:n.*98-5G>A | |
| ENST00000681247.1:c.*98-5G>A | ENSP00000505168.1:n.*98-5G>A | |
| ENST00000681377.1:n.1022-5G>A | ||
| ENST00000681380.1:c.777-5G>A | ENSP00000505402.1:n.777-5G>A | |
| ENST00000681655.1:c.615-5G>A | ENSP00000505036.1:n.615-5G>A | |
| ENST00000303097.11:c.369-5G>A | ENSP00000306225.7:n.369-5G>A | |
| ENST00000335438.7:c.*542-5G>A | ENSP00000335400.3:n.*542-5G>A | |
| ENST00000394222.7:c.690-5G>A | ENSP00000377769.3:n.690-5G>A | |
| ENST00000460371.5:c.*163-5G>A | ENSP00000417263.1:n.*163-5G>A | |
| ENST00000471138.5:c.690-5G>A | ENSP00000420780.1:n.690-5G>A | |
| ENST00000486562.1:n.646-5G>A | ||
| ENST00000535334.5:c.381-5G>A | ENSP00000445145.1:n.381-5G>A | |
| NM_001174150.1:c.690-5G>A | NP_001167621.1:n.690-5G>A | |
| NM_001174151.1:c.381-5G>A | NP_001167622.1:n.381-5G>A | |
| NM_144996.3:c.369-5G>A | NP_659433.2:n.369-5G>A | |
| NM_182896.2:c.690-5G>A | NP_878899.1:n.690-5G>A | |
| NR_033427.1:n.730-5G>A | ||
| XM_006713531.2:c.645-5G>A | XP_006713594.1:n.645-5G>A | |
| XM_006713532.2:c.645-5G>A | XP_006713595.1:n.645-5G>A | |
| XM_011512532.1:c.654-5G>A | XP_011510834.1:n.654-5G>A | |
| XM_011512533.1:c.654-5G>A | XP_011510835.1:n.654-5G>A | |
| XM_011512534.1:c.645-5G>A | XP_011510836.1:n.645-5G>A | |
| XM_011512535.1:c.615-5G>A | XP_011510837.1:n.615-5G>A | |
| XM_011512536.1:c.381-5G>A | XP_011510838.1:n.381-5G>A | |
| NM_001321328.1:c.645-5G>A | NP_001308257.1:n.645-5G>A | |
| NR_135621.1:n.721-5G>A | ||
| XM_006713532.3:c.645-5G>A | XP_006713595.1:n.645-5G>A | |
| XM_011512532.2:c.654-5G>A | XP_011510834.1:n.654-5G>A | |
| XM_011512533.2:c.654-5G>A | XP_011510835.1:n.654-5G>A | |
| XM_011512534.2:c.645-5G>A | XP_011510836.1:n.645-5G>A | |
| XM_011512535.2:c.615-5G>A | XP_011510837.1:n.615-5G>A | |
| XM_017005853.1:c.381-5G>A | XP_016861342.1:n.381-5G>A | |
| NM_001174150.2:c.690-5G>A MANE Select | NP_001167621.1:n.690-5G>A | |
| NM_001321328.2:c.645-5G>A | NP_001308257.1:n.645-5G>A | |
| NM_144996.4:c.369-5G>A | NP_659433.2:n.369-5G>A | |
| NM_182896.3:c.690-5G>A | NP_878899.1:n.690-5G>A | |
| NR_033427.2:n.714-5G>A | ||
| NR_135621.2:n.705-5G>A | ||
| NM_001174151.2:c.381-5G>A | NP_001167622.1:n.381-5G>A |