Linked Data
dbSNP Id:
rs774241893
ExAC:
11:67925447 C / T
gnomAD v2:
11-67925447-C-T
gnomAD v4:
11-68157980-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68157980C>T , CM000673.2:g.68157980C>T | GRCh38 |
| NC_000011.9:g.67925447C>T , CM000673.1:g.67925447C>T | GRCh37 |
| NC_000011.8:g.67682023C>T | NCBI36 |
| NG_052873.1:g.60793G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453170.6:c.2153G>A | ENSP00000406377.2:p.Gly718Glu | |
| ENST00000524672.3:n.2718G>A | ||
| ENST00000700520.1:c.*1990G>A | ENSP00000515027.1:n.*1990G>A | |
| ENST00000700521.1:c.*2033G>A | ENSP00000515028.1:n.*2033G>A | |
| ENST00000700522.1:c.*2033G>A | ENSP00000515029.1:n.*2033G>A | |
| ENST00000700523.1:c.1850G>A | ENSP00000515030.1:p.Gly617Glu | |
| ENST00000700524.1:c.*1574G>A | ENSP00000515031.1:n.*1574G>A | |
| ENST00000304363.9:c.2366G>A MANE Select | ENSP00000305899.4:p.Gly789Glu | |
| ENST00000304363.8:c.2366G>A | ENSP00000305899.4:p.Gly789Glu | |
| ENST00000441488.6:c.*1574G>A | ENSP00000411146.2:n.*1574G>A | |
| ENST00000615954.4:c.2366G>A | ENSP00000484858.1:p.Gly789Glu | |
| NM_001300907.1:c.1850G>A | NP_001287836.1:p.Gly617Glu | |
| NM_001300908.1:c.1646G>A | NP_001287837.1:p.Gly549Glu | |
| NM_017635.4:c.2366G>A | NP_060105.3:p.Gly789Glu | |
| XM_005274035.2:c.2366G>A | XP_005274092.2:p.Gly789Glu | |
| XM_005274036.2:c.2297G>A | XP_005274093.2:p.Gly766Glu | |
| XM_005274037.1:c.1850G>A | XP_005274094.1:p.Gly617Glu | |
| XM_006718581.1:c.2297G>A | XP_006718644.1:p.Gly766Glu | |
| XM_011545091.1:c.2366G>A | XP_011543393.1:p.Gly789Glu | |
| XM_011545092.1:c.2153G>A | XP_011543394.1:p.Gly718Glu | |
| XM_011545093.1:c.1124G>A | XP_011543395.1:p.Gly375Glu | |
| XM_005274035.4:c.2366G>A | XP_005274092.2:p.Gly789Glu | |
| XM_005274036.4:c.2297G>A | XP_005274093.2:p.Gly766Glu | |
| XM_006718581.2:c.2297G>A | XP_006718644.1:p.Gly766Glu | |
| XM_011545092.3:c.2153G>A | XP_011543394.1:p.Gly718Glu | |
| XM_017017876.2:c.1850G>A | XP_016873365.1:p.Gly617Glu | |
| XM_017017877.2:c.1850G>A | XP_016873366.1:p.Gly617Glu | |
| XM_017017878.2:c.1850G>A | XP_016873367.1:p.Gly617Glu | |
| XM_017017879.2:c.1850G>A | XP_016873368.1:p.Gly617Glu | |
| XM_024448570.1:c.1124G>A | XP_024304338.1:p.Gly375Glu | |
| NM_017635.5:c.2366G>A MANE Select | NP_060105.3:p.Gly789Glu | |
| NM_001300908.2:c.1646G>A | NP_001287837.1:p.Gly549Glu | |
| NM_001369426.1:c.2366G>A | NP_001356355.1:p.Gly789Glu | |
| NM_001369428.1:c.1850G>A | NP_001356357.1:p.Gly617Glu | |
| NM_001369429.1:c.1850G>A | NP_001356358.1:p.Gly617Glu | |
| NM_001369430.1:c.1850G>A | NP_001356359.1:p.Gly617Glu | |
| NM_001369431.1:c.1850G>A | NP_001356360.1:p.Gly617Glu | |
| NM_001369432.1:c.1850G>A | NP_001356361.1:p.Gly617Glu | |
| NM_001369433.1:c.1850G>A | NP_001356362.1:p.Gly617Glu |