Linked Data
dbSNP Id:
rs1043652192
gnomAD v2:
1-179525775-T-C
gnomAD v3:
1-179556640-T-C
gnomAD v4:
1-179556640-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179556640T>C , CM000663.2:g.179556640T>C | GRCh38 |
| NC_000001.10:g.179525775T>C , CM000663.1:g.179525775T>C | GRCh37 |
| NC_000001.9:g.177792398T>C | NCBI36 |
| NG_007535.1:g.24310A>G , LRG_887:g.24310A>G | |
| NG_033075.1:g.195921T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367615.9:c.738+387A>G MANE Select | ENSP00000356587.4:n.738+387A>G | |
| ENST00000367615.8:c.738+387A>G | ENSP00000356587.4:n.738+387A>G | |
| ENST00000367616.4:c.535-2109A>G | ENSP00000356588.4:n.535-2109A>G | |
| NM_001297575.1:c.535-2109A>G | NP_001284504.1:n.535-2109A>G | |
| NM_014625.3:c.738+387A>G , LRG_887t1:c.738+387A>G | NP_055440.1:n.738+387A>G | |
| XM_005245483.2:c.561+387A>G | XP_005245540.1:n.561+387A>G | |
| XM_006711529.2:c.738+387A>G | XP_006711592.1:n.738+387A>G | |
| XM_005245483.3:c.561+387A>G | XP_005245540.1:n.561+387A>G | |
| XM_017002298.1:c.461+3039A>G | XP_016857787.1:n.461+3039A>G | |
| XM_017002299.1:c.534+3039A>G | XP_016857788.1:n.534+3039A>G | |
| NM_001297575.2:c.535-2109A>G | NP_001284504.1:n.535-2109A>G | |
| NM_014625.4:c.738+387A>G MANE Select | NP_055440.1:n.738+387A>G |