Linked Data
dbSNP Id:
rs530382280
gnomAD v2:
1-1738052-C-G
gnomAD v3:
1-1806613-C-G
gnomAD v4:
1-1806613-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1806613C>G , CM000663.2:g.1806613C>G | GRCh38 |
| NC_000001.10:g.1738052C>G , CM000663.1:g.1738052C>G | GRCh37 |
| NC_000001.9:g.1727912C>G | NCBI36 |
| NG_047052.1:g.89505G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439272.7:c.165-75G>C | ENSP00000399741.3:n.165-75G>C | |
| ENST00000615252.5:c.-97-75G>C | ENSP00000483532.1:n.-97-75G>C | |
| ENST00000703692.1:c.204-75G>C | ENSP00000515427.1:n.204-75G>C | |
| ENST00000703693.1:c.204-75G>C | ENSP00000515428.1:n.204-75G>C | |
| ENST00000703694.1:c.204-75G>C | ENSP00000515429.1:n.204-75G>C | |
| ENST00000703695.1:c.204-75G>C | ENSP00000515430.1:n.204-75G>C | |
| ENST00000703696.1:c.204-75G>C | ENSP00000515431.1:n.204-75G>C | |
| ENST00000703697.1:c.204-75G>C | ENSP00000515432.1:n.204-75G>C | |
| ENST00000703699.1:c.204-75G>C | ENSP00000515433.1:n.204-75G>C | |
| ENST00000703700.1:c.204-75G>C | ENSP00000515434.1:n.204-75G>C | |
| ENST00000703701.1:c.204-75G>C | ENSP00000515435.1:n.204-75G>C | |
| ENST00000703702.1:c.204-75G>C | ENSP00000515436.1:n.204-75G>C | |
| ENST00000703703.1:c.204-75G>C | ENSP00000515437.1:n.204-75G>C | |
| ENST00000703704.1:c.204-75G>C | ENSP00000515438.1:n.204-75G>C | |
| ENST00000703705.1:c.72-75G>C | ENSP00000515439.1:n.72-75G>C | |
| ENST00000703706.1:c.204-75G>C | ENSP00000515440.1:n.204-75G>C | |
| ENST00000703707.1:c.165-75G>C | ENSP00000515441.1:n.165-75G>C | |
| ENST00000703708.1:c.204-75G>C | ENSP00000515442.1:n.204-75G>C | |
| ENST00000703709.1:c.204-75G>C | ENSP00000515443.1:n.204-75G>C | |
| ENST00000703710.1:c.204-75G>C | ENSP00000515444.1:n.204-75G>C | |
| ENST00000703711.1:c.204-75G>C | ENSP00000515445.1:n.204-75G>C | |
| ENST00000378609.9:c.204-75G>C MANE Select | ENSP00000367872.3:n.204-75G>C | |
| ENST00000378609.8:c.204-75G>C | ENSP00000367872.3:n.204-75G>C | |
| ENST00000434686.6:c.204-75G>C | ENSP00000392765.2:n.204-75G>C | |
| ENST00000437146.1:c.204-75G>C | ENSP00000416651.1:n.204-75G>C | |
| ENST00000439272.6:c.165-75G>C | ENSP00000399741.2:n.165-75G>C | |
| ENST00000471354.1:n.808-75G>C | ||
| ENST00000610897.4:c.204-75G>C | ENSP00000481878.1:n.204-75G>C | |
| ENST00000615252.4:c.-97-75G>C | ENSP00000483532.1:n.-97-75G>C | |
| NM_001282538.1:c.-97-75G>C | NP_001269467.1:n.-97-75G>C | |
| NM_001282539.1:c.204-75G>C | NP_001269468.1:n.204-75G>C | |
| NM_002074.4:c.204-75G>C | NP_002065.1:n.204-75G>C | |
| XM_017001059.2:c.204-75G>C | XP_016856548.1:n.204-75G>C | |
| XM_017001060.2:c.204-75G>C | XP_016856549.1:n.204-75G>C | |
| XM_017001061.2:c.204-75G>C | XP_016856550.1:n.204-75G>C | |
| XM_024446495.1:c.204-75G>C | XP_024302263.1:n.204-75G>C | |
| NM_002074.5:c.204-75G>C MANE Select | NP_002065.1:n.204-75G>C | |
| NM_001282538.2:c.-97-75G>C | NP_001269467.1:n.-97-75G>C | |
| NM_001282539.2:c.204-75G>C | NP_001269468.1:n.204-75G>C |