Linked Data
ClinVar Variation Id:
372467
ClinVar RCV Id:
RCV000413301
RCV000515768
RCV000705809
RCV000987525
RCV001027613
RCV001266930
RCV003156092
RCV003922673
dbSNP Id:
rs587777709
MutSpliceDB:
CA16042620
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.68293835G>A , CM000667.2:g.68293835G>A | GRCh38 |
| NC_000005.9:g.67589663G>A , CM000667.1:g.67589663G>A | GRCh37 |
| NC_000005.8:g.67625419G>A | NCBI36 |
| NG_012849.2:g.83080G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320694.13:c.525+1G>A | ENSP00000323512.8:n.525+1G>A | |
| ENST00000336483.10:c.615+1G>A | ENSP00000338554.5:n.615+1G>A | |
| ENST00000517643.2:c.1425+1G>A | ENSP00000513333.1:n.1425+1G>A | |
| ENST00000517698.6:c.*395+1G>A | ENSP00000430424.1:n.*395+1G>A | |
| ENST00000521657.6:c.1425+1G>A | ENSP00000429277.1:n.1425+1G>A | |
| ENST00000522084.6:c.615+1G>A | ENSP00000429766.2:n.615+1G>A | |
| ENST00000697457.1:c.1350+1G>A | ENSP00000513315.1:n.1350+1G>A | |
| ENST00000697458.1:c.1425+1G>A | ENSP00000513316.1:n.1425+1G>A | |
| ENST00000697460.1:c.900+1G>A | ENSP00000513318.1:n.900+1G>A | |
| ENST00000697461.1:c.1425+1G>A | ENSP00000513319.1:n.1425+1G>A | |
| ENST00000697462.1:c.615+1G>A | ENSP00000513320.1:n.615+1G>A | |
| ENST00000697463.1:n.1066+1G>A | ||
| ENST00000697464.1:c.*391+1G>A | ENSP00000513322.1:n.*391+1G>A | |
| ENST00000697465.1:c.462+1G>A | ENSP00000513323.1:n.462+1G>A | |
| ENST00000697466.1:c.432+1G>A | ENSP00000513324.1:n.432+1G>A | |
| ENST00000697467.1:c.336+1G>A | ENSP00000513325.1:n.336+1G>A | |
| ENST00000697468.1:c.408+1G>A | ENSP00000513326.1:n.408+1G>A | |
| ENST00000697469.1:c.117+1G>A | ENSP00000513327.1:n.117+1G>A | |
| ENST00000697470.1:c.21+1G>A | ENSP00000513328.1:n.21+1G>A | |
| ENST00000697557.1:c.408+1G>A | ENSP00000513335.1:n.408+1G>A | |
| ENST00000521381.6:c.1425+1G>A MANE Select | ENSP00000428056.1:n.1425+1G>A | |
| ENST00000320694.12:c.525+1G>A | ENSP00000323512.8:n.525+1G>A | |
| ENST00000336483.9:c.615+1G>A | ENSP00000338554.5:n.615+1G>A | |
| ENST00000517698.5:c.*395+1G>A | ENSP00000430424.1:n.*395+1G>A | |
| ENST00000518813.5:n.1968+1G>A | ||
| ENST00000519025.5:c.444+1G>A | ENSP00000429156.1:n.444+1G>A | |
| ENST00000520550.1:n.824+1G>A | ||
| ENST00000521381.5:c.1425+1G>A | ENSP00000428056.1:n.1425+1G>A | |
| ENST00000521409.5:c.336+1G>A | ENSP00000431058.1:n.336+1G>A | |
| ENST00000521657.5:c.1425+1G>A | ENSP00000429277.1:n.1425+1G>A | |
| ENST00000523872.1:c.336+1G>A | ENSP00000430098.1:n.336+1G>A | |
| NM_001242466.1:c.336+1G>A | NP_001229395.1:n.336+1G>A | |
| NM_181504.3:c.615+1G>A | NP_852556.2:n.615+1G>A | |
| NM_181523.2:c.1425+1G>A | NP_852664.1:n.1425+1G>A | |
| NM_181524.1:c.525+1G>A | NP_852665.1:n.525+1G>A | |
| XM_005248542.2:c.1425+1G>A | XP_005248599.1:n.1425+1G>A | |
| XM_011543493.1:c.1098+1G>A | XP_011541795.1:n.1098+1G>A | |
| XM_005248542.3:c.1425+1G>A | XP_005248599.1:n.1425+1G>A | |
| XM_011543493.3:c.1098+1G>A | XP_011541795.1:n.1098+1G>A | |
| XM_017009585.2:c.1425+1G>A | XP_016865074.1:n.1425+1G>A | |
| XM_017009586.1:c.1152+1G>A | XP_016865075.1:n.1152+1G>A | |
| NM_181523.3:c.1425+1G>A MANE Select | NP_852664.1:n.1425+1G>A | |
| NM_001242466.2:c.336+1G>A | NP_001229395.1:n.336+1G>A | |
| NM_181504.4:c.615+1G>A | NP_852556.2:n.615+1G>A | |
| NM_181524.2:c.525+1G>A | NP_852665.1:n.525+1G>A |