Linked Data
ClinVar Variation Id:
217639
ClinVar RCV Id:
RCV000201597
RCV000521437
RCV001036850
RCV002250594
RCV001828040
RCV002485329
RCV003468926
RCV003155122
dbSNP Id:
rs749439750
ExAC:
12:88478545 G / A
gnomAD v2:
12-88478545-G-A
gnomAD v3:
12-88084768-G-A
gnomAD v4:
12-88084768-G-A
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88084768G>A , CM000674.2:g.88084768G>A | GRCh38 |
| NC_000012.11:g.88478545G>A , CM000674.1:g.88478545G>A | GRCh37 |
| NC_000012.10:g.87002676G>A | NCBI36 |
| NG_008417.1:g.62449C>T | |
| NG_008417.2:g.62449C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.4522C>T | ENSP00000308021.8:p.Arg1508Ter | |
| ENST00000547691.8:c.1806C>T | ||
| ENST00000552810.6:c.4522C>T MANE Select | ENSP00000448012.1:p.Arg1508Ter | |
| ENST00000672414.2:c.*2693C>T | ENSP00000500729.1:n.*2693C>T | |
| ENST00000672647.1:n.2882C>T | ||
| ENST00000673058.2:c.4522C>T | ENSP00000500665.2:p.Arg1508Ter | |
| ENST00000674971.1:c.4522C>T | ENSP00000502194.1:p.Arg1508Ter | |
| ENST00000675230.1:c.4501C>T | ENSP00000502503.1:p.Arg1501Ter | |
| ENST00000675408.1:c.4522C>T | ENSP00000502298.1:p.Arg1508Ter | |
| ENST00000675476.1:c.5383C>T | ENSP00000502161.1:p.Arg1795Ter | |
| ENST00000675628.1:n.4749C>T | ||
| ENST00000675794.1:c.*2693C>T | ENSP00000502841.1:n.*2693C>T | |
| ENST00000675833.1:c.5290C>T | ENSP00000502559.1:p.Arg1764Ter | |
| ENST00000675894.1:n.827C>T | ||
| ENST00000676074.1:c.4522C>T | ENSP00000502079.1:p.Arg1508Ter | |
| ENST00000676181.1:n.3450C>T | ||
| ENST00000676363.1:n.10248C>T | ||
| ENST00000676448.1:c.*2435C>T | ENSP00000501987.1:n.*2435C>T | |
| ENST00000309041.11:c.4528C>T | ENSP00000308021.7:p.Arg1510Ter | |
| ENST00000547691.6:c.1702C>T | ENSP00000446905.1:p.Arg568Ter | |
| ENST00000552810.5:c.4522C>T | ENSP00000448012.1:p.Arg1508Ter | |
| NM_025114.3:c.4522C>T | NP_079390.3:p.Arg1508Ter | |
| XM_011538756.1:c.5383C>T | XP_011537058.1:p.Arg1795Ter | |
| XM_011538757.1:c.5383C>T | XP_011537059.1:p.Arg1795Ter | |
| XM_011538758.1:c.5383C>T | XP_011537060.1:p.Arg1795Ter | |
| XM_011538759.1:c.5383C>T | XP_011537061.1:p.Arg1795Ter | |
| XM_011538760.1:c.5383C>T | XP_011537062.1:p.Arg1795Ter | |
| XM_011538761.1:c.5383C>T | XP_011537063.1:p.Arg1795Ter | |
| XM_011538762.1:c.4615C>T | XP_011537064.1:p.Arg1539Ter | |
| XM_011538763.1:c.4522C>T | XP_011537065.1:p.Arg1508Ter | |
| XM_011538764.1:c.5383C>T | XP_011537066.1:p.Arg1795Ter | |
| XM_011538765.1:c.5383C>T | XP_011537067.1:p.Arg1795Ter | |
| XM_011538766.1:c.3844C>T | XP_011537068.1:p.Arg1282Ter | |
| XM_011538756.3:c.5383C>T | XP_011537058.1:p.Arg1795Ter | |
| XM_011538757.3:c.5383C>T | XP_011537059.1:p.Arg1795Ter | |
| XM_011538758.3:c.5383C>T | XP_011537060.1:p.Arg1795Ter | |
| XM_011538759.2:c.5383C>T | XP_011537061.1:p.Arg1795Ter | |
| XM_011538760.2:c.5383C>T | XP_011537062.1:p.Arg1795Ter | |
| XM_011538761.2:c.5383C>T | XP_011537063.1:p.Arg1795Ter | |
| XM_011538762.3:c.4615C>T | XP_011537064.1:p.Arg1539Ter | |
| XM_011538763.3:c.4522C>T | XP_011537065.1:p.Arg1508Ter | |
| XM_011538764.3:c.5383C>T | XP_011537066.1:p.Arg1795Ter | |
| XM_011538765.3:c.5383C>T | XP_011537067.1:p.Arg1795Ter | |
| XM_011538766.3:c.3844C>T | XP_011537068.1:p.Arg1282Ter | |
| XM_017019980.2:c.5383C>T | XP_016875469.1:p.Arg1795Ter | |
| XM_017019981.2:c.5383C>T | XP_016875470.1:p.Arg1795Ter | |
| XM_017019982.1:c.5383C>T | XP_016875471.1:p.Arg1795Ter | |
| XM_017019983.2:c.4501C>T | XP_016875472.1:p.Arg1501Ter | |
| XR_001748869.1:n.5727C>T | ||
| XR_001748870.2:n.5727C>T | ||
| NM_025114.4:c.4522C>T MANE Select | NP_079390.3:p.Arg1508Ter |