Linked Data
dbSNP Id:
rs1333227468
gnomAD v2:
19-36592609-C-T
gnomAD v3:
19-36101707-C-T
gnomAD v4:
19-36101707-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36101707C>T , CM000681.2:g.36101707C>T | GRCh38 |
| NC_000019.9:g.36592609C>T , CM000681.1:g.36592609C>T | GRCh37 |
| NC_000019.8:g.41284449C>T | NCBI36 |
| NG_028101.1:g.51827C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.3015C>T | ENSP00000270301.6:p.Ala1005= | |
| ENST00000401500.7:c.3015C>T MANE Select | ENSP00000384792.1:p.Ala1005= | |
| ENST00000587391.6:c.*2051C>T | ENSP00000465525.1:n.*2051C>T | |
| ENST00000679357.1:c.805C>T | ||
| ENST00000679422.1:c.762-307C>T | ||
| ENST00000679682.1:c.3000C>T | ENSP00000506226.1:p.Ala1000= | |
| ENST00000679714.1:c.3009C>T | ENSP00000506627.1:p.Ala1003= | |
| ENST00000679757.1:c.2664C>T | ENSP00000505158.1:p.Ala888= | |
| ENST00000679858.1:c.*2158C>T | ENSP00000505655.1:n.*2158C>T | |
| ENST00000680211.1:c.-385C>T | ENSP00000506102.1:n.-385C>T | |
| ENST00000680349.1:n.998C>T | ||
| ENST00000680403.1:c.3015C>T | ENSP00000505677.1:p.Ala1005= | |
| ENST00000680564.1:c.2971+390C>T | ENSP00000505582.1:n.2971+390C>T | |
| ENST00000680590.1:c.*1410C>T | ENSP00000505350.1:n.*1410C>T | |
| ENST00000680773.1:n.692C>T | ||
| ENST00000680806.1:c.*1801-307C>T | ENSP00000506418.1:n.*1801-307C>T | |
| ENST00000680997.1:n.362C>T | ||
| ENST00000681088.1:c.677C>T | ||
| ENST00000681625.1:c.*347C>T | ENSP00000505555.1:n.*347C>T | |
| ENST00000270301.11:c.3015C>T | ENSP00000270301.6:p.Ala1005= | |
| ENST00000401500.6:c.3015C>T | ENSP00000384792.1:p.Ala1005= | |
| ENST00000587391.5:c.*2051C>T | ENSP00000465525.1:n.*2051C>T | |
| NM_001083961.1:c.3015C>T | NP_001077430.1:p.Ala1005= | |
| NM_173636.4:c.3015C>T | NP_775907.4:p.Ala1005= | |
| XM_005258809.2:c.2972-307C>T | XP_005258866.1:n.2972-307C>T | |
| XM_011526837.1:c.3000C>T | XP_011525139.1:p.Ala1000= | |
| XM_011526838.1:c.2971+390C>T | XP_011525140.1:n.2971+390C>T | |
| XM_011526839.1:c.2664C>T | XP_011525141.1:p.Ala888= | |
| XM_011526840.1:c.2007C>T | XP_011525142.1:p.Ala669= | |
| XM_011526841.1:c.1593C>T | XP_011525143.1:p.Ala531= | |
| XM_011526842.1:c.1446C>T | XP_011525144.1:p.Ala482= | |
| XM_011526843.1:c.762C>T | XP_011525145.1:p.Ala254= | |
| XM_011526844.1:c.762C>T | XP_011525146.1:p.Ala254= | |
| XM_011526840.2:c.2007C>T | XP_011525142.1:p.Ala669= | |
| XM_011526841.2:c.1593C>T | XP_011525143.1:p.Ala531= | |
| XM_011526844.2:c.762C>T | XP_011525146.1:p.Ala254= | |
| XM_017026665.1:c.3015C>T | XP_016882154.1:p.Ala1005= | |
| NM_001083961.2:c.3015C>T MANE Select | NP_001077430.1:p.Ala1005= | |
| NM_173636.5:c.3015C>T | NP_775907.4:p.Ala1005= |