Linked Data
ClinVar Variation Id:
1165408
ClinVar RCV Id:
RCV001512492
dbSNP Id:
rs11657747
ExAC:
17:5445243 G / A
gnomAD v2:
17-5445243-G-A
gnomAD v3:
17-5541923-G-A
gnomAD v4:
17-5541923-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.5541923G>A , CM000679.2:g.5541923G>A | GRCh38 |
| NC_000017.10:g.5445243G>A , CM000679.1:g.5445243G>A | GRCh37 |
| NC_000017.9:g.5385967G>A | NCBI36 |
| NG_011651.1:g.47590C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262467.11:c.2633C>T | ENSP00000262467.5:p.Thr878Met | |
| ENST00000269280.9:c.2633C>T | ENSP00000269280.4:p.Thr878Met | |
| ENST00000354411.8:c.2633C>T | ENSP00000346390.3:p.Thr878Met | |
| ENST00000544378.7:c.2633C>T | ENSP00000442029.2:p.Thr878Met | |
| ENST00000571307.2:c.2633C>T | ENSP00000514459.1:p.Thr878Met | |
| ENST00000571451.7:c.2633C>T | ENSP00000459661.3:p.Thr878Met | |
| ENST00000572143.2:c.2633C>T | ENSP00000514476.1:p.Thr878Met | |
| ENST00000576905.6:c.2633C>T | ENSP00000458303.2:p.Thr878Met | |
| ENST00000617618.5:c.2633C>T | ENSP00000478516.1:p.Thr878Met | |
| ENST00000699586.1:c.2633C>T | ENSP00000514458.1:p.Thr878Met | |
| ENST00000699613.1:c.2633C>T | ENSP00000514477.1:p.Thr878Met | |
| ENST00000699614.1:c.2633C>T | ENSP00000514478.1:p.Thr878Met | |
| ENST00000699615.1:c.*339C>T | ENSP00000514479.1:n.*339C>T | |
| ENST00000699622.1:c.276C>T | ||
| ENST00000699623.1:c.2633C>T | ENSP00000514483.1:p.Thr878Met | |
| ENST00000699625.1:c.2633C>T | ENSP00000514484.1:p.Thr878Met | |
| ENST00000699629.1:c.2633C>T | ENSP00000514488.1:p.Thr878Met | |
| ENST00000699630.1:c.*1918C>T | ENSP00000514489.1:n.*1918C>T | |
| ENST00000699631.1:n.1119C>T | ||
| ENST00000699632.1:c.2633C>T | ENSP00000514490.1:p.Thr878Met | |
| ENST00000699633.1:c.2633C>T | ENSP00000514491.1:p.Thr878Met | |
| ENST00000699634.1:c.2633C>T | ENSP00000514492.1:p.Thr878Met | |
| ENST00000699636.1:n.3167C>T | ||
| ENST00000699642.1:c.*1818C>T | ENSP00000514495.1:n.*1818C>T | |
| ENST00000699643.1:c.*2281C>T | ENSP00000514496.1:n.*2281C>T | |
| ENST00000699644.1:c.*1918C>T | ENSP00000514497.1:n.*1918C>T | |
| ENST00000699645.1:c.*1918C>T | ENSP00000514498.1:n.*1918C>T | |
| ENST00000699665.1:c.*202C>T | ENSP00000514508.1:n.*202C>T | |
| ENST00000699705.1:c.2633C>T | ENSP00000514530.1:p.Thr878Met | |
| ENST00000699706.1:c.105C>T | ||
| ENST00000699707.1:c.2633C>T | ENSP00000514532.1:p.Thr878Met | |
| ENST00000699708.1:c.*202C>T | ENSP00000514533.1:n.*202C>T | |
| ENST00000699709.1:c.2633C>T | ENSP00000514534.1:p.Thr878Met | |
| ENST00000699710.1:c.2633C>T | ENSP00000514535.1:p.Thr878Met | |
| ENST00000699711.1:c.2633C>T | ENSP00000514536.1:p.Thr878Met | |
| ENST00000699712.1:c.2633C>T | ENSP00000514537.1:p.Thr878Met | |
| ENST00000699713.1:c.2633C>T | ENSP00000514538.1:p.Thr878Met | |
| ENST00000699771.1:c.105C>T | ||
| ENST00000699775.1:c.2666C>T | ENSP00000514581.1:p.Thr889Met | |
| ENST00000699776.1:c.*174C>T | ENSP00000514582.1:n.*174C>T | |
| ENST00000699809.1:c.2633C>T | ENSP00000514612.1:p.Thr878Met | |
| ENST00000699810.1:c.2633C>T | ENSP00000514613.1:p.Thr878Met | |
| ENST00000262467.10:c.2633C>T | ENSP00000262467.5:p.Thr878Met | |
| ENST00000572272.6:c.2633C>T MANE Select | ENSP00000460475.1:p.Thr878Met | |
| ENST00000262467.9:c.2633C>T | ENSP00000262467.5:p.Thr878Met | |
| ENST00000269280.8:c.2633C>T | ENSP00000269280.4:p.Thr878Met | |
| ENST00000345221.7:c.2633C>T | ENSP00000324366.3:p.Thr878Met | |
| ENST00000354411.7:c.2633C>T | ENSP00000346390.3:p.Thr878Met | |
| ENST00000544378.6:c.2633C>T | ENSP00000442029.2:p.Thr878Met | |
| ENST00000571307.1:n.2999C>T | ||
| ENST00000571451.6:c.2633C>T | ENSP00000459661.2:p.Thr878Met | |
| ENST00000572272.5:c.2633C>T | ENSP00000460475.1:p.Thr878Met | |
| ENST00000577119.5:c.2633C>T | ENSP00000460216.1:p.Thr878Met | |
| ENST00000613500.4:c.2633C>T | ENSP00000483359.1:p.Thr878Met | |
| ENST00000617618.4:c.2633C>T | ENSP00000478516.1:p.Thr878Met | |
| ENST00000619223.4:c.2633C>T | ENSP00000484692.1:p.Thr878Met | |
| NM_001033053.2:c.2633C>T | NP_001028225.1:p.Thr878Met | |
| NM_014922.4:c.2633C>T | NP_055737.1:p.Thr878Met | |
| NM_033004.3:c.2633C>T | NP_127497.1:p.Thr878Met | |
| NM_033006.3:c.2633C>T | NP_127499.1:p.Thr878Met | |
| NM_033007.3:c.2633C>T | NP_127500.1:p.Thr878Met | |
| XR_934181.1:n.492+1735G>A | ||
| XR_934182.1:n.492+1735G>A | ||
| XR_934183.1:n.492+1735G>A | ||
| NM_033004.4:c.2633C>T MANE Select | NP_127497.1:p.Thr878Met | |
| NM_001033053.3:c.2633C>T | NP_001028225.1:p.Thr878Met | |
| NM_014922.5:c.2633C>T | NP_055737.1:p.Thr878Met | |
| NM_033006.4:c.2633C>T | NP_127499.1:p.Thr878Met | |
| NM_033007.4:c.2633C>T | NP_127500.1:p.Thr878Met |