Linked Data
ClinVar Variation Id:
1326868
ClinVar RCV Id:
RCV001787253
dbSNP Id:
rs2112278427
MutSpliceDB:
CA359883176
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.68295419G>C , CM000667.2:g.68295419G>C | GRCh38 |
| NC_000005.9:g.67591247G>C , CM000667.1:g.67591247G>C | GRCh37 |
| NC_000005.8:g.67627003G>C | NCBI36 |
| NG_012849.2:g.84664G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320694.13:c.846-1G>C | ENSP00000323512.8:n.846-1G>C | |
| ENST00000336483.10:c.936-1G>C | ENSP00000338554.5:n.936-1G>C | |
| ENST00000517643.2:c.1746-1G>C | ENSP00000513333.1:n.1746-1G>C | |
| ENST00000517698.6:c.*716-1G>C | ENSP00000430424.1:n.*716-1G>C | |
| ENST00000521657.6:c.1746-1G>C | ENSP00000429277.1:n.1746-1G>C | |
| ENST00000522084.6:c.936-1G>C | ENSP00000429766.2:n.936-1G>C | |
| ENST00000697457.1:c.1671-1G>C | ENSP00000513315.1:n.1671-1G>C | |
| ENST00000697458.1:c.1746-1G>C | ENSP00000513316.1:n.1746-1G>C | |
| ENST00000697460.1:c.1221-1G>C | ENSP00000513318.1:n.1221-1G>C | |
| ENST00000697461.1:c.1746-1G>C | ENSP00000513319.1:n.1746-1G>C | |
| ENST00000697462.1:c.936-1G>C | ENSP00000513320.1:n.936-1G>C | |
| ENST00000697463.1:n.1387-1G>C | ||
| ENST00000697464.1:c.*712-1G>C | ENSP00000513322.1:n.*712-1G>C | |
| ENST00000697465.1:c.783-1G>C | ENSP00000513323.1:n.783-1G>C | |
| ENST00000697466.1:c.753-1G>C | ENSP00000513324.1:n.753-1G>C | |
| ENST00000697467.1:c.657-1G>C | ENSP00000513325.1:n.657-1G>C | |
| ENST00000697468.1:c.729-1G>C | ENSP00000513326.1:n.729-1G>C | |
| ENST00000697469.1:c.438-1G>C | ENSP00000513327.1:n.438-1G>C | |
| ENST00000697470.1:c.342-1G>C | ENSP00000513328.1:n.342-1G>C | |
| ENST00000697557.1:c.729-1G>C | ENSP00000513335.1:n.729-1G>C | |
| ENST00000521381.6:c.1746-1G>C MANE Select | ENSP00000428056.1:n.1746-1G>C | |
| ENST00000320694.12:c.846-1G>C | ENSP00000323512.8:n.846-1G>C | |
| ENST00000336483.9:c.936-1G>C | ENSP00000338554.5:n.936-1G>C | |
| ENST00000517698.5:c.*716-1G>C | ENSP00000430424.1:n.*716-1G>C | |
| ENST00000518813.5:n.2289-1G>C | ||
| ENST00000520550.1:n.1145-1G>C | ||
| ENST00000521381.5:c.1746-1G>C | ENSP00000428056.1:n.1746-1G>C | |
| ENST00000521657.5:c.1746-1G>C | ENSP00000429277.1:n.1746-1G>C | |
| ENST00000523872.1:c.657-1G>C | ENSP00000430098.1:n.657-1G>C | |
| NM_001242466.1:c.657-1G>C | NP_001229395.1:n.657-1G>C | |
| NM_181504.3:c.936-1G>C | NP_852556.2:n.936-1G>C | |
| NM_181523.2:c.1746-1G>C | NP_852664.1:n.1746-1G>C | |
| NM_181524.1:c.846-1G>C | NP_852665.1:n.846-1G>C | |
| XM_005248542.2:c.1746-1G>C | XP_005248599.1:n.1746-1G>C | |
| XM_011543493.1:c.1419-1G>C | XP_011541795.1:n.1419-1G>C | |
| XM_005248542.3:c.1746-1G>C | XP_005248599.1:n.1746-1G>C | |
| XM_011543493.3:c.1419-1G>C | XP_011541795.1:n.1419-1G>C | |
| XM_017009585.2:c.1746-1G>C | XP_016865074.1:n.1746-1G>C | |
| XM_017009586.1:c.1473-1G>C | XP_016865075.1:n.1473-1G>C | |
| NM_181523.3:c.1746-1G>C MANE Select | NP_852664.1:n.1746-1G>C | |
| NM_001242466.2:c.657-1G>C | NP_001229395.1:n.657-1G>C | |
| NM_181504.4:c.936-1G>C | NP_852556.2:n.936-1G>C | |
| NM_181524.2:c.846-1G>C | NP_852665.1:n.846-1G>C |