Linked Data
dbSNP Id:
rs7582694
gnomAD v2:
2-191970120-C-G
gnomAD v3:
2-191105394-C-G
gnomAD v4:
2-191105394-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.191105394C>G , CM000664.2:g.191105394C>G | GRCh38 |
| NC_000002.11:g.191970120C>G , CM000664.1:g.191970120C>G | GRCh37 |
| NC_000002.10:g.191678365C>G | NCBI36 |
| NG_012852.1:g.50806G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392320.7:c.274-29069G>C MANE Select | ENSP00000376134.2:n.274-29069G>C | |
| ENST00000647167.1:c.274-29069G>C | ENSP00000495153.1:n.274-29069G>C | |
| ENST00000358470.8:c.274-29069G>C | ENSP00000351255.4:n.274-29069G>C | |
| ENST00000392320.6:c.274-29069G>C | ENSP00000376134.2:n.274-29069G>C | |
| ENST00000413064.5:c.193-29069G>C | ENSP00000403238.1:n.193-29069G>C | |
| ENST00000495326.1:n.344-29069G>C | ||
| ENST00000495849.5:n.342-29069G>C | ||
| NM_001243835.1:c.274-29069G>C | NP_001230764.1:n.274-29069G>C | |
| NM_003151.3:c.274-29069G>C | NP_003142.1:n.274-29069G>C | |
| XM_005246817.3:c.301-29069G>C | XP_005246874.1:n.301-29069G>C | |
| XM_006712719.2:c.274-29069G>C | XP_006712782.1:n.274-29069G>C | |
| XM_011511704.1:c.301-29069G>C | XP_011510006.1:n.301-29069G>C | |
| XM_011511705.1:c.274-29069G>C | XP_011510007.1:n.274-29069G>C | |
| XM_011511706.1:c.301-29069G>C | XP_011510008.1:n.301-29069G>C | |
| XM_006712719.3:c.274-29069G>C | XP_006712782.1:n.274-29069G>C | |
| XM_011511705.2:c.274-29069G>C | XP_011510007.1:n.274-29069G>C | |
| XM_017004784.2:c.274-29069G>C | XP_016860273.1:n.274-29069G>C | |
| NM_003151.4:c.274-29069G>C MANE Select | NP_003142.1:n.274-29069G>C | |
| NM_001243835.2:c.274-29069G>C | NP_001230764.1:n.274-29069G>C |