Linked Data
ClinVar Variation Id:
212730
ClinVar RCV Id:
RCV000192446
dbSNP Id:
rs797044604
gnomAD v4:
12-88086450-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88086450C>A , CM000674.2:g.88086450C>A | GRCh38 |
| NC_000012.11:g.88480227C>A , CM000674.1:g.88480227C>A | GRCh37 |
| NC_000012.10:g.87004358C>A | NCBI36 |
| NG_008417.1:g.60767G>T | |
| NG_008417.2:g.60767G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.4243G>T | ENSP00000308021.8:p.Glu1415Ter | |
| ENST00000547691.8:c.1527G>T | ||
| ENST00000552810.6:c.4243G>T MANE Select | ENSP00000448012.1:p.Glu1415Ter | |
| ENST00000672414.2:c.*2414G>T | ENSP00000500729.1:n.*2414G>T | |
| ENST00000672647.1:n.2603G>T | ||
| ENST00000673058.2:c.4243G>T | ENSP00000500665.2:p.Glu1415Ter | |
| ENST00000674971.1:c.4243G>T | ENSP00000502194.1:p.Glu1415Ter | |
| ENST00000675230.1:c.4222G>T | ENSP00000502503.1:p.Glu1408Ter | |
| ENST00000675408.1:c.4243G>T | ENSP00000502298.1:p.Glu1415Ter | |
| ENST00000675476.1:c.5104G>T | ENSP00000502161.1:p.Glu1702Ter | |
| ENST00000675628.1:n.4470G>T | ||
| ENST00000675794.1:c.*2414G>T | ENSP00000502841.1:n.*2414G>T | |
| ENST00000675833.1:c.5011G>T | ENSP00000502559.1:p.Glu1671Ter | |
| ENST00000675894.1:n.548G>T | ||
| ENST00000676074.1:c.4243G>T | ENSP00000502079.1:p.Glu1415Ter | |
| ENST00000676181.1:n.3171G>T | ||
| ENST00000676363.1:n.9969G>T | ||
| ENST00000676448.1:c.*2156G>T | ENSP00000501987.1:n.*2156G>T | |
| ENST00000309041.11:c.4249G>T | ENSP00000308021.7:p.Glu1417Ter | |
| ENST00000547691.6:c.1423G>T | ENSP00000446905.1:p.Glu475Ter | |
| ENST00000552810.5:c.4243G>T | ENSP00000448012.1:p.Glu1415Ter | |
| NM_025114.3:c.4243G>T | NP_079390.3:p.Glu1415Ter | |
| XM_011538756.1:c.5104G>T | XP_011537058.1:p.Glu1702Ter | |
| XM_011538757.1:c.5104G>T | XP_011537059.1:p.Glu1702Ter | |
| XM_011538758.1:c.5104G>T | XP_011537060.1:p.Glu1702Ter | |
| XM_011538759.1:c.5104G>T | XP_011537061.1:p.Glu1702Ter | |
| XM_011538760.1:c.5104G>T | XP_011537062.1:p.Glu1702Ter | |
| XM_011538761.1:c.5104G>T | XP_011537063.1:p.Glu1702Ter | |
| XM_011538762.1:c.4336G>T | XP_011537064.1:p.Glu1446Ter | |
| XM_011538763.1:c.4243G>T | XP_011537065.1:p.Glu1415Ter | |
| XM_011538764.1:c.5104G>T | XP_011537066.1:p.Glu1702Ter | |
| XM_011538765.1:c.5104G>T | XP_011537067.1:p.Glu1702Ter | |
| XM_011538766.1:c.3565G>T | XP_011537068.1:p.Glu1189Ter | |
| XM_011538756.3:c.5104G>T | XP_011537058.1:p.Glu1702Ter | |
| XM_011538757.3:c.5104G>T | XP_011537059.1:p.Glu1702Ter | |
| XM_011538758.3:c.5104G>T | XP_011537060.1:p.Glu1702Ter | |
| XM_011538759.2:c.5104G>T | XP_011537061.1:p.Glu1702Ter | |
| XM_011538760.2:c.5104G>T | XP_011537062.1:p.Glu1702Ter | |
| XM_011538761.2:c.5104G>T | XP_011537063.1:p.Glu1702Ter | |
| XM_011538762.3:c.4336G>T | XP_011537064.1:p.Glu1446Ter | |
| XM_011538763.3:c.4243G>T | XP_011537065.1:p.Glu1415Ter | |
| XM_011538764.3:c.5104G>T | XP_011537066.1:p.Glu1702Ter | |
| XM_011538765.3:c.5104G>T | XP_011537067.1:p.Glu1702Ter | |
| XM_011538766.3:c.3565G>T | XP_011537068.1:p.Glu1189Ter | |
| XM_017019980.2:c.5104G>T | XP_016875469.1:p.Glu1702Ter | |
| XM_017019981.2:c.5104G>T | XP_016875470.1:p.Glu1702Ter | |
| XM_017019982.1:c.5104G>T | XP_016875471.1:p.Glu1702Ter | |
| XM_017019983.2:c.4222G>T | XP_016875472.1:p.Glu1408Ter | |
| XR_001748869.1:n.5448G>T | ||
| XR_001748870.2:n.5448G>T | ||
| NM_025114.4:c.4243G>T MANE Select | NP_079390.3:p.Glu1415Ter |