Linked Data
dbSNP Id:
rs10769908
gnomAD v2:
11-8484089-C-T
gnomAD v3:
11-8462542-C-T
gnomAD v4:
11-8462542-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8462542C>T , CM000673.2:g.8462542C>T | GRCh38 |
| NC_000011.9:g.8484089C>T , CM000673.1:g.8484089C>T | GRCh37 |
| NC_000011.8:g.8440665C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000687296.1:c.454-633G>A MANE Select | ENSP00000509322.1:n.454-633G>A | |
| ENST00000315204.5:c.454-633G>A | ENSP00000320754.1:n.454-633G>A | |
| ENST00000358872.7:c.-108-633G>A | ENSP00000351743.3:n.-108-633G>A | |
| ENST00000396672.5:c.454-633G>A | ENSP00000379905.1:n.454-633G>A | |
| ENST00000418597.5:c.331-633G>A | ENSP00000391362.1:n.331-633G>A | |
| ENST00000422559.6:c.331-633G>A | ENSP00000411510.2:n.331-633G>A | |
| ENST00000447869.5:c.454-633G>A | ENSP00000416750.1:n.454-633G>A | |
| ENST00000457885.6:c.454-633G>A | ENSP00000403599.2:n.454-633G>A | |
| ENST00000486305.6:n.2947-633G>A | ||
| ENST00000524760.5:c.190-633G>A | ENSP00000436905.1:n.190-633G>A | |
| ENST00000526517.1:n.178-9636G>A | ||
| ENST00000534493.5:c.331-633G>A | ENSP00000436418.1:n.331-633G>A | |
| NM_001289058.1:c.331-633G>A | NP_001275987.1:n.331-633G>A | |
| NM_001289059.1:c.-108-633G>A | NP_001275988.1:n.-108-633G>A | |
| NM_001289061.1:c.454-633G>A | NP_001275990.1:n.454-633G>A | |
| NM_030906.3:c.454-633G>A | NP_112168.1:n.454-633G>A | |
| XM_011520288.1:c.454-633G>A | XP_011518590.1:n.454-633G>A | |
| XM_011520289.1:c.454-633G>A | XP_011518591.1:n.454-633G>A | |
| XM_011520290.1:c.454-633G>A | XP_011518592.1:n.454-633G>A | |
| XM_011520291.1:c.454-633G>A | XP_011518593.1:n.454-633G>A | |
| XM_011520292.1:c.454-633G>A | XP_011518594.1:n.454-633G>A | |
| XM_011520293.1:c.454-633G>A | XP_011518595.1:n.454-633G>A | |
| XM_011520294.1:c.454-633G>A | XP_011518596.1:n.454-633G>A | |
| XM_011520295.1:c.454-633G>A | XP_011518597.1:n.454-633G>A | |
| XM_011520296.1:c.331-633G>A | XP_011518598.1:n.331-633G>A | |
| XM_011520297.1:c.331-633G>A | XP_011518599.1:n.331-633G>A | |
| XM_011520298.1:c.454-633G>A | XP_011518600.1:n.454-633G>A | |
| XR_428847.2:n.714-633G>A | ||
| NM_001352387.1:c.454-633G>A | NP_001339316.1:n.454-633G>A | |
| NM_001352388.1:c.454-633G>A | NP_001339317.1:n.454-633G>A | |
| NM_001352389.1:c.454-633G>A | NP_001339318.1:n.454-633G>A | |
| NM_001352390.1:c.454-633G>A | NP_001339319.1:n.454-633G>A | |
| NM_001352391.1:c.454-633G>A | NP_001339320.1:n.454-633G>A | |
| NM_001352392.1:c.454-633G>A | NP_001339321.1:n.454-633G>A | |
| NM_001352393.1:c.454-633G>A | NP_001339322.1:n.454-633G>A | |
| NM_001352394.1:c.331-633G>A | NP_001339323.1:n.331-633G>A | |
| NM_001352395.1:c.331-633G>A | NP_001339324.1:n.331-633G>A | |
| NM_001352396.1:c.331-633G>A | NP_001339325.1:n.331-633G>A | |
| NM_001352397.1:c.331-633G>A | NP_001339326.1:n.331-633G>A | |
| NM_001352398.1:c.331-633G>A | NP_001339327.1:n.331-633G>A | |
| NM_001352399.1:c.454-633G>A | NP_001339328.1:n.454-633G>A | |
| XM_011520290.2:c.454-633G>A | XP_011518592.1:n.454-633G>A | |
| XM_011520295.2:c.454-633G>A | XP_011518597.1:n.454-633G>A | |
| XM_011520297.2:c.331-633G>A | XP_011518599.1:n.331-633G>A | |
| XM_017018144.2:c.454-633G>A | XP_016873633.1:n.454-633G>A | |
| XM_017018145.1:c.454-633G>A | XP_016873634.1:n.454-633G>A | |
| XM_017018146.1:c.454-633G>A | XP_016873635.1:n.454-633G>A | |
| XM_017018147.1:c.454-633G>A | XP_016873636.1:n.454-633G>A | |
| XM_017018148.1:c.454-633G>A | XP_016873637.1:n.454-633G>A | |
| XM_017018152.1:c.454-633G>A | XP_016873641.1:n.454-633G>A | |
| XM_017018153.2:c.454-633G>A | XP_016873642.1:n.454-633G>A | |
| XM_017018154.1:c.454-633G>A | XP_016873643.1:n.454-633G>A | |
| XM_017018155.2:c.454-633G>A | XP_016873644.1:n.454-633G>A | |
| XM_017018156.1:c.454-633G>A | XP_016873645.1:n.454-633G>A | |
| XM_017018157.1:c.331-633G>A | XP_016873646.1:n.331-633G>A | |
| XM_017018159.1:c.454-633G>A | XP_016873648.1:n.454-633G>A | |
| XM_017018161.1:c.454-633G>A | XP_016873650.1:n.454-633G>A | |
| XR_001747938.1:n.3022-633G>A | ||
| XR_001747939.1:n.3022-633G>A | ||
| NM_001289058.2:c.331-633G>A | NP_001275987.1:n.331-633G>A | |
| NM_001289059.2:c.-108-633G>A | NP_001275988.1:n.-108-633G>A | |
| NM_001289061.2:c.454-633G>A | NP_001275990.1:n.454-633G>A | |
| NM_001352387.2:c.454-633G>A | NP_001339316.1:n.454-633G>A | |
| NM_001352388.2:c.454-633G>A | NP_001339317.1:n.454-633G>A | |
| NM_001352389.2:c.454-633G>A MANE Select | NP_001339318.1:n.454-633G>A | |
| NM_001352390.2:c.454-633G>A | NP_001339319.1:n.454-633G>A | |
| NM_001352391.2:c.454-633G>A | NP_001339320.1:n.454-633G>A | |
| NM_001352392.2:c.454-633G>A | NP_001339321.1:n.454-633G>A | |
| NM_001352393.2:c.454-633G>A | NP_001339322.1:n.454-633G>A | |
| NM_001352394.2:c.331-633G>A | NP_001339323.1:n.331-633G>A | |
| NM_001352395.2:c.331-633G>A | NP_001339324.1:n.331-633G>A | |
| NM_001352396.2:c.331-633G>A | NP_001339325.1:n.331-633G>A | |
| NM_001352397.2:c.331-633G>A | NP_001339326.1:n.331-633G>A | |
| NM_001352398.2:c.331-633G>A | NP_001339327.1:n.331-633G>A | |
| NM_001352399.2:c.454-633G>A | NP_001339328.1:n.454-633G>A | |
| NM_030906.4:c.454-633G>A | NP_112168.1:n.454-633G>A |