Linked Data
ClinVar Variation Id:
310589
ClinVar RCV Id:
RCV000282628
RCV000295385
RCV000335271
RCV000374397
RCV000400288
RCV000465588
RCV001276480
RCV001700050
RCV001545810
RCV003888721
dbSNP Id:
rs189556433
ExAC:
12:88444154 C / A
gnomAD v2:
12-88444154-C-A
gnomAD v3:
12-88050377-C-A
gnomAD v4:
12-88050377-C-A
COSMIC:
COSM147573
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88050377C>A , CM000674.2:g.88050377C>A | GRCh38 |
| NC_000012.11:g.88444154C>A , CM000674.1:g.88444154C>A | GRCh37 |
| NC_000012.10:g.86968285C>A | NCBI36 |
| NG_008417.1:g.96840G>T | |
| NG_008417.2:g.96840G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.7195G>T | ENSP00000308021.8:p.Asp2399Tyr | |
| ENST00000547691.8:c.4155G>T | ||
| ENST00000552810.6:c.7186G>T MANE Select | ENSP00000448012.1:p.Asp2396Tyr | |
| ENST00000671777.2:n.965G>T | ||
| ENST00000672414.2:c.*5192G>T | ENSP00000500729.1:n.*5192G>T | |
| ENST00000672647.1:n.5546G>T | ||
| ENST00000673058.2:c.7063G>T | ENSP00000500665.2:p.Asp2355Tyr | |
| ENST00000674712.1:n.713G>T | ||
| ENST00000674889.1:n.4139G>T | ||
| ENST00000674971.1:c.*143G>T | ENSP00000502194.1:n.*143G>T | |
| ENST00000675230.1:c.7165G>T | ENSP00000502503.1:p.Asp2389Tyr | |
| ENST00000675408.1:c.7021G>T | ENSP00000502298.1:p.Asp2341Tyr | |
| ENST00000675476.1:c.8047G>T | ENSP00000502161.1:p.Asp2683Tyr | |
| ENST00000675628.1:n.9168G>T | ||
| ENST00000675794.1:c.*5357G>T | ENSP00000502841.1:n.*5357G>T | |
| ENST00000675833.1:c.7954G>T | ENSP00000502559.1:p.Asp2652Tyr | |
| ENST00000675894.1:n.3491G>T | ||
| ENST00000676074.1:c.*143G>T | ENSP00000502079.1:n.*143G>T | |
| ENST00000676181.1:n.7869G>T | ||
| ENST00000676190.1:n.3380G>T | ||
| ENST00000676363.1:n.12912G>T | ||
| ENST00000309041.11:c.7192G>T | ENSP00000308021.7:p.Asp2398Tyr | |
| ENST00000547691.6:c.4366G>T | ENSP00000446905.1:p.Asp1456Tyr | |
| ENST00000552810.5:c.7186G>T | ENSP00000448012.1:p.Asp2396Tyr | |
| NM_025114.3:c.7186G>T | NP_079390.3:p.Asp2396Tyr | |
| XM_011538756.1:c.8056G>T | XP_011537058.1:p.Asp2686Tyr | |
| XM_011538757.1:c.8056G>T | XP_011537059.1:p.Asp2686Tyr | |
| XM_011538758.1:c.8053G>T | XP_011537060.1:p.Asp2685Tyr | |
| XM_011538759.1:c.8047G>T | XP_011537061.1:p.Asp2683Tyr | |
| XM_011538760.1:c.7933G>T | XP_011537062.1:p.Asp2645Tyr | |
| XM_011538761.1:c.7891G>T | XP_011537063.1:p.Asp2631Tyr | |
| XM_011538762.1:c.7288G>T | XP_011537064.1:p.Asp2430Tyr | |
| XM_011538763.1:c.7195G>T | XP_011537065.1:p.Asp2399Tyr | |
| XM_011538766.1:c.6517G>T | XP_011537068.1:p.Asp2173Tyr | |
| XM_011538756.3:c.8056G>T | XP_011537058.1:p.Asp2686Tyr | |
| XM_011538757.3:c.8056G>T | XP_011537059.1:p.Asp2686Tyr | |
| XM_011538758.3:c.8053G>T | XP_011537060.1:p.Asp2685Tyr | |
| XM_011538759.2:c.8047G>T | XP_011537061.1:p.Asp2683Tyr | |
| XM_011538760.2:c.7933G>T | XP_011537062.1:p.Asp2645Tyr | |
| XM_011538761.2:c.7891G>T | XP_011537063.1:p.Asp2631Tyr | |
| XM_011538762.3:c.7288G>T | XP_011537064.1:p.Asp2430Tyr | |
| XM_011538763.3:c.7195G>T | XP_011537065.1:p.Asp2399Tyr | |
| XM_011538766.3:c.6517G>T | XP_011537068.1:p.Asp2173Tyr | |
| XM_017019980.2:c.7924G>T | XP_016875469.1:p.Asp2642Tyr | |
| XM_017019981.2:c.7882G>T | XP_016875470.1:p.Asp2628Tyr | |
| XM_017019983.2:c.7174G>T | XP_016875472.1:p.Asp2392Tyr | |
| XR_001748869.1:n.8317G>T | ||
| XR_001748870.2:n.8152G>T | ||
| NM_025114.4:c.7186G>T MANE Select | NP_079390.3:p.Asp2396Tyr |