Linked Data
ClinVar Variation Id:
136729
ClinVar RCV Id:
RCV000124246
RCV000337209
RCV000279934
RCV000293222
RCV000375509
RCV001271579
RCV001812001
RCV000372128
RCV000459124
RCV002294037
dbSNP Id:
rs150138016
ExAC:
12:88484613 C / T
gnomAD v2:
12-88484613-C-T
gnomAD v3:
12-88090836-C-T
gnomAD v4:
12-88090836-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88090836C>T , CM000674.2:g.88090836C>T | GRCh38 |
| NC_000012.11:g.88484613C>T , CM000674.1:g.88484613C>T | GRCh37 |
| NC_000012.10:g.87008744C>T | NCBI36 |
| NG_008417.1:g.56381G>A | |
| NG_008417.2:g.56381G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.3465G>A | ENSP00000308021.8:p.Leu1155= | |
| ENST00000547691.8:c.749G>A | ||
| ENST00000552810.6:c.3465G>A MANE Select | ENSP00000448012.1:p.Leu1155= | |
| ENST00000672414.2:c.*1636G>A | ENSP00000500729.1:n.*1636G>A | |
| ENST00000672647.1:n.1825G>A | ||
| ENST00000673058.2:c.3465G>A | ENSP00000500665.2:p.Leu1155= | |
| ENST00000674971.1:c.3465G>A | ENSP00000502194.1:p.Leu1155= | |
| ENST00000675089.1:c.290G>A | ENSP00000501582.1:p.Ter97= | |
| ENST00000675230.1:c.3444G>A | ENSP00000502503.1:p.Leu1148= | |
| ENST00000675408.1:c.3465G>A | ENSP00000502298.1:p.Leu1155= | |
| ENST00000675476.1:c.4326G>A | ENSP00000502161.1:p.Leu1442= | |
| ENST00000675628.1:n.3692G>A | ||
| ENST00000675794.1:c.*1636G>A | ENSP00000502841.1:n.*1636G>A | |
| ENST00000675833.1:c.4233G>A | ENSP00000502559.1:p.Leu1411= | |
| ENST00000676074.1:c.3465G>A | ENSP00000502079.1:p.Leu1155= | |
| ENST00000676181.1:n.1153G>A | ||
| ENST00000676363.1:n.9191G>A | ||
| ENST00000676448.1:c.*1378G>A | ENSP00000501987.1:n.*1378G>A | |
| ENST00000309041.11:c.3471G>A | ENSP00000308021.7:p.Leu1157= | |
| ENST00000547691.6:c.645G>A | ENSP00000446905.1:p.Leu215= | |
| ENST00000552810.5:c.3465G>A | ENSP00000448012.1:p.Leu1155= | |
| NM_025114.3:c.3465G>A | NP_079390.3:p.Leu1155= | |
| XM_011538756.1:c.4326G>A | XP_011537058.1:p.Leu1442= | |
| XM_011538757.1:c.4326G>A | XP_011537059.1:p.Leu1442= | |
| XM_011538758.1:c.4326G>A | XP_011537060.1:p.Leu1442= | |
| XM_011538759.1:c.4326G>A | XP_011537061.1:p.Leu1442= | |
| XM_011538760.1:c.4326G>A | XP_011537062.1:p.Leu1442= | |
| XM_011538761.1:c.4326G>A | XP_011537063.1:p.Leu1442= | |
| XM_011538762.1:c.3558G>A | XP_011537064.1:p.Leu1186= | |
| XM_011538763.1:c.3465G>A | XP_011537065.1:p.Leu1155= | |
| XM_011538764.1:c.4326G>A | XP_011537066.1:p.Leu1442= | |
| XM_011538765.1:c.4326G>A | XP_011537067.1:p.Leu1442= | |
| XM_011538766.1:c.2787G>A | XP_011537068.1:p.Leu929= | |
| XM_011538756.3:c.4326G>A | XP_011537058.1:p.Leu1442= | |
| XM_011538757.3:c.4326G>A | XP_011537059.1:p.Leu1442= | |
| XM_011538758.3:c.4326G>A | XP_011537060.1:p.Leu1442= | |
| XM_011538759.2:c.4326G>A | XP_011537061.1:p.Leu1442= | |
| XM_011538760.2:c.4326G>A | XP_011537062.1:p.Leu1442= | |
| XM_011538761.2:c.4326G>A | XP_011537063.1:p.Leu1442= | |
| XM_011538762.3:c.3558G>A | XP_011537064.1:p.Leu1186= | |
| XM_011538763.3:c.3465G>A | XP_011537065.1:p.Leu1155= | |
| XM_011538764.3:c.4326G>A | XP_011537066.1:p.Leu1442= | |
| XM_011538765.3:c.4326G>A | XP_011537067.1:p.Leu1442= | |
| XM_011538766.3:c.2787G>A | XP_011537068.1:p.Leu929= | |
| XM_017019980.2:c.4326G>A | XP_016875469.1:p.Leu1442= | |
| XM_017019981.2:c.4326G>A | XP_016875470.1:p.Leu1442= | |
| XM_017019982.1:c.4326G>A | XP_016875471.1:p.Leu1442= | |
| XM_017019983.2:c.3444G>A | XP_016875472.1:p.Leu1148= | |
| XR_001748869.1:n.4670G>A | ||
| XR_001748870.2:n.4670G>A | ||
| NM_025114.4:c.3465G>A MANE Select | NP_079390.3:p.Leu1155= |