Linked Data
ClinVar Variation Id:
2633735
ClinVar RCV Id:
RCV004552484
dbSNP Id:
rs769300408
ExAC:
11:67925430 G / T
gnomAD v2:
11-67925430-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68157963G>T , CM000673.2:g.68157963G>T | GRCh38 |
| NC_000011.9:g.67925430G>T , CM000673.1:g.67925430G>T | GRCh37 |
| NC_000011.8:g.67682006G>T | NCBI36 |
| NG_052873.1:g.60810C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453170.6:c.2170C>A | ENSP00000406377.2:p.Leu724Ile | |
| ENST00000524672.3:n.2735C>A | ||
| ENST00000700520.1:c.*2007C>A | ENSP00000515027.1:n.*2007C>A | |
| ENST00000700521.1:c.*2050C>A | ENSP00000515028.1:n.*2050C>A | |
| ENST00000700522.1:c.*2050C>A | ENSP00000515029.1:n.*2050C>A | |
| ENST00000700523.1:c.1867C>A | ENSP00000515030.1:p.Leu623Ile | |
| ENST00000700524.1:c.*1591C>A | ENSP00000515031.1:n.*1591C>A | |
| ENST00000304363.9:c.2383C>A MANE Select | ENSP00000305899.4:p.Leu795Ile | |
| ENST00000304363.8:c.2383C>A | ENSP00000305899.4:p.Leu795Ile | |
| ENST00000441488.6:c.*1591C>A | ENSP00000411146.2:n.*1591C>A | |
| ENST00000615954.4:c.2383C>A | ENSP00000484858.1:p.Leu795Ile | |
| NM_001300907.1:c.1867C>A | NP_001287836.1:p.Leu623Ile | |
| NM_001300908.1:c.1663C>A | NP_001287837.1:p.Leu555Ile | |
| NM_017635.4:c.2383C>A | NP_060105.3:p.Leu795Ile | |
| XM_005274035.2:c.2383C>A | XP_005274092.2:p.Leu795Ile | |
| XM_005274036.2:c.2314C>A | XP_005274093.2:p.Leu772Ile | |
| XM_005274037.1:c.1867C>A | XP_005274094.1:p.Leu623Ile | |
| XM_006718581.1:c.2314C>A | XP_006718644.1:p.Leu772Ile | |
| XM_011545091.1:c.2383C>A | XP_011543393.1:p.Leu795Ile | |
| XM_011545092.1:c.2170C>A | XP_011543394.1:p.Leu724Ile | |
| XM_011545093.1:c.1141C>A | XP_011543395.1:p.Leu381Ile | |
| XM_005274035.4:c.2383C>A | XP_005274092.2:p.Leu795Ile | |
| XM_005274036.4:c.2314C>A | XP_005274093.2:p.Leu772Ile | |
| XM_006718581.2:c.2314C>A | XP_006718644.1:p.Leu772Ile | |
| XM_011545092.3:c.2170C>A | XP_011543394.1:p.Leu724Ile | |
| XM_017017876.2:c.1867C>A | XP_016873365.1:p.Leu623Ile | |
| XM_017017877.2:c.1867C>A | XP_016873366.1:p.Leu623Ile | |
| XM_017017878.2:c.1867C>A | XP_016873367.1:p.Leu623Ile | |
| XM_017017879.2:c.1867C>A | XP_016873368.1:p.Leu623Ile | |
| XM_024448570.1:c.1141C>A | XP_024304338.1:p.Leu381Ile | |
| NM_017635.5:c.2383C>A MANE Select | NP_060105.3:p.Leu795Ile | |
| NM_001300908.2:c.1663C>A | NP_001287837.1:p.Leu555Ile | |
| NM_001369426.1:c.2383C>A | NP_001356355.1:p.Leu795Ile | |
| NM_001369428.1:c.1867C>A | NP_001356357.1:p.Leu623Ile | |
| NM_001369429.1:c.1867C>A | NP_001356358.1:p.Leu623Ile | |
| NM_001369430.1:c.1867C>A | NP_001356359.1:p.Leu623Ile | |
| NM_001369431.1:c.1867C>A | NP_001356360.1:p.Leu623Ile | |
| NM_001369432.1:c.1867C>A | NP_001356361.1:p.Leu623Ile | |
| NM_001369433.1:c.1867C>A | NP_001356362.1:p.Leu623Ile |