Linked Data
ClinVar Variation Id:
388113
ClinVar RCV Id:
RCV000733432
RCV001084047
RCV001109606
RCV001109607
RCV001109608
RCV001111898
RCV001111899
dbSNP Id:
rs201295052
ExAC:
12:88510905 G / A
gnomAD v2:
12-88510905-G-A
gnomAD v3:
12-88117128-G-A
gnomAD v4:
12-88117128-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88117128G>A , CM000674.2:g.88117128G>A | GRCh38 |
| NC_000012.11:g.88510905G>A , CM000674.1:g.88510905G>A | GRCh37 |
| NC_000012.10:g.87035036G>A | NCBI36 |
| NG_008417.1:g.30089C>T | |
| NG_008417.2:g.30089C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.1729C>T | ENSP00000308021.8:p.Leu577= | |
| ENST00000397838.8:c.1675C>T | ENSP00000380938.5:p.Leu559= | |
| ENST00000547926.7:c.1729C>T | ENSP00000448573.3:p.Leu577= | |
| ENST00000552810.6:c.1729C>T MANE Select | ENSP00000448012.1:p.Leu577= | |
| ENST00000671822.2:n.3380+1355C>T | ||
| ENST00000672414.2:c.1711+1355C>T | ENSP00000500729.1:n.1711+1355C>T | |
| ENST00000673058.2:c.1729C>T | ENSP00000500665.2:p.Leu577= | |
| ENST00000674971.1:c.1729C>T | ENSP00000502194.1:p.Leu577= | |
| ENST00000675230.1:c.1708C>T | ENSP00000502503.1:p.Leu570= | |
| ENST00000675408.1:c.1729C>T | ENSP00000502298.1:p.Leu577= | |
| ENST00000675476.1:c.1729C>T | ENSP00000502161.1:p.Leu577= | |
| ENST00000675559.1:c.*275C>T | ENSP00000502163.1:n.*275C>T | |
| ENST00000675628.1:n.1956C>T | ||
| ENST00000675794.1:c.1711+1355C>T | ENSP00000502841.1:n.1711+1355C>T | |
| ENST00000675833.1:c.1729C>T | ENSP00000502559.1:p.Leu577= | |
| ENST00000676074.1:c.1729C>T | ENSP00000502079.1:p.Leu577= | |
| ENST00000676351.1:c.*2684C>T | ENSP00000502046.1:n.*2684C>T | |
| ENST00000676363.1:n.3792C>T | ||
| ENST00000676448.1:c.1729C>T | ENSP00000501987.1:p.Leu577= | |
| ENST00000309041.11:c.1735C>T | ENSP00000308021.7:p.Leu579= | |
| ENST00000397838.7:c.1735C>T | ENSP00000380938.4:p.Leu579= | |
| ENST00000547926.6:c.1627C>T | ENSP00000448573.2:p.Leu543= | |
| ENST00000552810.5:c.1729C>T | ENSP00000448012.1:p.Leu577= | |
| ENST00000604024.5:c.895C>T | ENSP00000473863.1:p.Leu299= | |
| NM_025114.3:c.1729C>T | NP_079390.3:p.Leu577= | |
| XM_011538756.1:c.1729C>T | XP_011537058.1:p.Leu577= | |
| XM_011538757.1:c.1729C>T | XP_011537059.1:p.Leu577= | |
| XM_011538758.1:c.1729C>T | XP_011537060.1:p.Leu577= | |
| XM_011538759.1:c.1729C>T | XP_011537061.1:p.Leu577= | |
| XM_011538760.1:c.1729C>T | XP_011537062.1:p.Leu577= | |
| XM_011538761.1:c.1729C>T | XP_011537063.1:p.Leu577= | |
| XM_011538762.1:c.1729C>T | XP_011537064.1:p.Leu577= | |
| XM_011538763.1:c.1729C>T | XP_011537065.1:p.Leu577= | |
| XM_011538764.1:c.1729C>T | XP_011537066.1:p.Leu577= | |
| XM_011538765.1:c.1729C>T | XP_011537067.1:p.Leu577= | |
| XM_011538766.1:c.190C>T | XP_011537068.1:p.Leu64= | |
| XM_011538756.3:c.1729C>T | XP_011537058.1:p.Leu577= | |
| XM_011538757.3:c.1729C>T | XP_011537059.1:p.Leu577= | |
| XM_011538758.3:c.1729C>T | XP_011537060.1:p.Leu577= | |
| XM_011538759.2:c.1729C>T | XP_011537061.1:p.Leu577= | |
| XM_011538760.2:c.1729C>T | XP_011537062.1:p.Leu577= | |
| XM_011538761.2:c.1729C>T | XP_011537063.1:p.Leu577= | |
| XM_011538762.3:c.1729C>T | XP_011537064.1:p.Leu577= | |
| XM_011538763.3:c.1729C>T | XP_011537065.1:p.Leu577= | |
| XM_011538764.3:c.1729C>T | XP_011537066.1:p.Leu577= | |
| XM_011538765.3:c.1729C>T | XP_011537067.1:p.Leu577= | |
| XM_011538766.3:c.190C>T | XP_011537068.1:p.Leu64= | |
| XM_017019980.2:c.1729C>T | XP_016875469.1:p.Leu577= | |
| XM_017019981.2:c.1729C>T | XP_016875470.1:p.Leu577= | |
| XM_017019982.1:c.1729C>T | XP_016875471.1:p.Leu577= | |
| XM_017019983.2:c.1708C>T | XP_016875472.1:p.Leu570= | |
| XR_001748869.1:n.2073C>T | ||
| XR_001748870.2:n.2073C>T | ||
| NM_025114.4:c.1729C>T MANE Select | NP_079390.3:p.Leu577= |