Linked Data
ClinVar Variation Id:
1333
ClinVar RCV Id:
RCV000001396
RCV000086298
RCV000114202
RCV000515339
RCV000531295
RCV000787813
RCV001000092
RCV001002714
RCV001073790
RCV001261607
RCV001276487
RCV001542773
RCV001815157
RCV001836688
RCV001836689
RCV003147273
dbSNP Id:
rs137852832
ExAC:
12:88471040 C / A
gnomAD v2:
12-88471040-C-A
gnomAD v3:
12-88077263-C-A
gnomAD v4:
12-88077263-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88077263C>A , CM000674.2:g.88077263C>A | GRCh38 |
| NC_000012.11:g.88471040C>A , CM000674.1:g.88471040C>A | GRCh37 |
| NC_000012.10:g.86995171C>A | NCBI36 |
| NG_008417.1:g.69954G>T | |
| NG_008417.2:g.69954G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.5668G>T | ENSP00000308021.8:p.Gly1890Ter | |
| ENST00000547691.8:c.2952G>T | ||
| ENST00000552810.6:c.5668G>T MANE Select | ENSP00000448012.1:p.Gly1890Ter | |
| ENST00000672414.2:c.*3839G>T | ENSP00000500729.1:n.*3839G>T | |
| ENST00000672647.1:n.4028G>T | ||
| ENST00000673058.2:c.5668G>T | ENSP00000500665.2:p.Gly1890Ter | |
| ENST00000674971.1:c.5668G>T | ENSP00000502194.1:p.Gly1890Ter | |
| ENST00000675230.1:c.5647G>T | ENSP00000502503.1:p.Gly1883Ter | |
| ENST00000675408.1:c.5668G>T | ENSP00000502298.1:p.Gly1890Ter | |
| ENST00000675476.1:c.6529G>T | ENSP00000502161.1:p.Gly2177Ter | |
| ENST00000675628.1:n.5895G>T | ||
| ENST00000675794.1:c.*3839G>T | ENSP00000502841.1:n.*3839G>T | |
| ENST00000675833.1:c.6436G>T | ENSP00000502559.1:p.Gly2146Ter | |
| ENST00000675894.1:n.1973G>T | ||
| ENST00000676074.1:c.5668G>T | ENSP00000502079.1:p.Gly1890Ter | |
| ENST00000676181.1:n.4596G>T | ||
| ENST00000676363.1:n.11394G>T | ||
| ENST00000676448.1:c.*3581G>T | ENSP00000501987.1:n.*3581G>T | |
| ENST00000309041.11:c.5674G>T | ENSP00000308021.7:p.Gly1892Ter | |
| ENST00000547691.6:c.2848G>T | ENSP00000446905.1:p.Gly950Ter | |
| ENST00000552810.5:c.5668G>T | ENSP00000448012.1:p.Gly1890Ter | |
| NM_025114.3:c.5668G>T | NP_079390.3:p.Gly1890Ter | |
| XM_011538756.1:c.6529G>T | XP_011537058.1:p.Gly2177Ter | |
| XM_011538757.1:c.6529G>T | XP_011537059.1:p.Gly2177Ter | |
| XM_011538758.1:c.6529G>T | XP_011537060.1:p.Gly2177Ter | |
| XM_011538759.1:c.6529G>T | XP_011537061.1:p.Gly2177Ter | |
| XM_011538760.1:c.6529G>T | XP_011537062.1:p.Gly2177Ter | |
| XM_011538761.1:c.6529G>T | XP_011537063.1:p.Gly2177Ter | |
| XM_011538762.1:c.5761G>T | XP_011537064.1:p.Gly1921Ter | |
| XM_011538763.1:c.5668G>T | XP_011537065.1:p.Gly1890Ter | |
| XM_011538764.1:c.6529G>T | XP_011537066.1:p.Gly2177Ter | |
| XM_011538765.1:c.6529G>T | XP_011537067.1:p.Gly2177Ter | |
| XM_011538766.1:c.4990G>T | XP_011537068.1:p.Gly1664Ter | |
| XR_945163.1:n.968-5050C>A | ||
| XM_011538756.3:c.6529G>T | XP_011537058.1:p.Gly2177Ter | |
| XM_011538757.3:c.6529G>T | XP_011537059.1:p.Gly2177Ter | |
| XM_011538758.3:c.6529G>T | XP_011537060.1:p.Gly2177Ter | |
| XM_011538759.2:c.6529G>T | XP_011537061.1:p.Gly2177Ter | |
| XM_011538760.2:c.6529G>T | XP_011537062.1:p.Gly2177Ter | |
| XM_011538761.2:c.6529G>T | XP_011537063.1:p.Gly2177Ter | |
| XM_011538762.3:c.5761G>T | XP_011537064.1:p.Gly1921Ter | |
| XM_011538763.3:c.5668G>T | XP_011537065.1:p.Gly1890Ter | |
| XM_011538764.3:c.6529G>T | XP_011537066.1:p.Gly2177Ter | |
| XM_011538765.3:c.6529G>T | XP_011537067.1:p.Gly2177Ter | |
| XM_011538766.3:c.4990G>T | XP_011537068.1:p.Gly1664Ter | |
| XM_017019980.2:c.6529G>T | XP_016875469.1:p.Gly2177Ter | |
| XM_017019981.2:c.6529G>T | XP_016875470.1:p.Gly2177Ter | |
| XM_017019982.1:c.6529G>T | XP_016875471.1:p.Gly2177Ter | |
| XM_017019983.2:c.5647G>T | XP_016875472.1:p.Gly1883Ter | |
| XR_001748869.1:n.6873G>T | ||
| XR_001748870.2:n.6873G>T | ||
| NM_025114.4:c.5668G>T MANE Select | NP_079390.3:p.Gly1890Ter |