Linked Data
ClinVar Variation Id:
194563
ClinVar RCV Id:
RCV000174953
RCV000835406
RCV001084413
RCV001112002
RCV001112003
RCV001112004
RCV001112005
RCV001112006
dbSNP Id:
rs148446546
ExAC:
12:88513885 G / A
gnomAD v2:
12-88513885-G-A
gnomAD v3:
12-88120108-G-A
gnomAD v4:
12-88120108-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88120108G>A , CM000674.2:g.88120108G>A | GRCh38 |
| NC_000012.11:g.88513885G>A , CM000674.1:g.88513885G>A | GRCh37 |
| NC_000012.10:g.87038016G>A | NCBI36 |
| NG_008417.1:g.27109C>T | |
| NG_008417.2:g.27109C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.1522+6C>T | ENSP00000308021.8:n.1522+6C>T | |
| ENST00000397838.8:c.1468+6C>T | ENSP00000380938.5:n.1468+6C>T | |
| ENST00000547926.7:c.1522+6C>T | ENSP00000448573.3:n.1522+6C>T | |
| ENST00000552810.6:c.1522+6C>T MANE Select | ENSP00000448012.1:n.1522+6C>T | |
| ENST00000671822.2:n.1755C>T | ||
| ENST00000672414.2:c.1522+6C>T | ENSP00000500729.1:n.1522+6C>T | |
| ENST00000673058.2:c.1522+6C>T | ENSP00000500665.2:n.1522+6C>T | |
| ENST00000674971.1:c.1522+6C>T | ENSP00000502194.1:n.1522+6C>T | |
| ENST00000675230.1:c.1501+6C>T | ENSP00000502503.1:n.1501+6C>T | |
| ENST00000675408.1:c.1522+6C>T | ENSP00000502298.1:n.1522+6C>T | |
| ENST00000675476.1:c.1522+6C>T | ENSP00000502161.1:n.1522+6C>T | |
| ENST00000675559.1:c.1522+6C>T | ENSP00000502163.1:n.1522+6C>T | |
| ENST00000675628.1:n.1749+6C>T | ||
| ENST00000675794.1:c.1522+6C>T | ENSP00000502841.1:n.1522+6C>T | |
| ENST00000675833.1:c.1522+6C>T | ENSP00000502559.1:n.1522+6C>T | |
| ENST00000676074.1:c.1522+6C>T | ENSP00000502079.1:n.1522+6C>T | |
| ENST00000676351.1:c.*1041C>T | ENSP00000502046.1:n.*1041C>T | |
| ENST00000676363.1:n.3585+6C>T | ||
| ENST00000676418.1:c.1518+10C>T | ENSP00000502371.1:n.1518+10C>T | |
| ENST00000676448.1:c.1522+6C>T | ENSP00000501987.1:n.1522+6C>T | |
| ENST00000309041.11:c.1522+6C>T | ENSP00000308021.7:n.1522+6C>T | |
| ENST00000397838.7:c.1522+6C>T | ENSP00000380938.4:n.1522+6C>T | |
| ENST00000547926.6:c.1420+6C>T | ENSP00000448573.2:n.1420+6C>T | |
| ENST00000552810.5:c.1522+6C>T | ENSP00000448012.1:n.1522+6C>T | |
| ENST00000604024.5:c.688+6C>T | ENSP00000473863.1:n.688+6C>T | |
| NM_025114.3:c.1522+6C>T | NP_079390.3:n.1522+6C>T | |
| XM_011538756.1:c.1522+6C>T | XP_011537058.1:n.1522+6C>T | |
| XM_011538757.1:c.1522+6C>T | XP_011537059.1:n.1522+6C>T | |
| XM_011538758.1:c.1522+6C>T | XP_011537060.1:n.1522+6C>T | |
| XM_011538759.1:c.1522+6C>T | XP_011537061.1:n.1522+6C>T | |
| XM_011538760.1:c.1522+6C>T | XP_011537062.1:n.1522+6C>T | |
| XM_011538761.1:c.1522+6C>T | XP_011537063.1:n.1522+6C>T | |
| XM_011538762.1:c.1522+6C>T | XP_011537064.1:n.1522+6C>T | |
| XM_011538763.1:c.1522+6C>T | XP_011537065.1:n.1522+6C>T | |
| XM_011538764.1:c.1522+6C>T | XP_011537066.1:n.1522+6C>T | |
| XM_011538765.1:c.1522+6C>T | XP_011537067.1:n.1522+6C>T | |
| XM_011538756.3:c.1522+6C>T | XP_011537058.1:n.1522+6C>T | |
| XM_011538757.3:c.1522+6C>T | XP_011537059.1:n.1522+6C>T | |
| XM_011538758.3:c.1522+6C>T | XP_011537060.1:n.1522+6C>T | |
| XM_011538759.2:c.1522+6C>T | XP_011537061.1:n.1522+6C>T | |
| XM_011538760.2:c.1522+6C>T | XP_011537062.1:n.1522+6C>T | |
| XM_011538761.2:c.1522+6C>T | XP_011537063.1:n.1522+6C>T | |
| XM_011538762.3:c.1522+6C>T | XP_011537064.1:n.1522+6C>T | |
| XM_011538763.3:c.1522+6C>T | XP_011537065.1:n.1522+6C>T | |
| XM_011538764.3:c.1522+6C>T | XP_011537066.1:n.1522+6C>T | |
| XM_011538765.3:c.1522+6C>T | XP_011537067.1:n.1522+6C>T | |
| XM_017019980.2:c.1522+6C>T | XP_016875469.1:n.1522+6C>T | |
| XM_017019981.2:c.1522+6C>T | XP_016875470.1:n.1522+6C>T | |
| XM_017019982.1:c.1522+6C>T | XP_016875471.1:n.1522+6C>T | |
| XM_017019983.2:c.1501+6C>T | XP_016875472.1:n.1501+6C>T | |
| XR_001748869.1:n.1866+6C>T | ||
| XR_001748870.2:n.1866+6C>T | ||
| NM_025114.4:c.1522+6C>T MANE Select | NP_079390.3:n.1522+6C>T |