Linked Data
ClinVar Variation Id:
259936
dbSNP Id:
rs1632311
ExAC:
1:162722846 C / G
gnomAD v2:
1-162722846-C-G
gnomAD v3:
1-162753056-C-G
gnomAD v4:
1-162753056-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.162753056C>G , CM000663.2:g.162753056C>G | GRCh38 |
| NC_000001.10:g.162722846C>G , CM000663.1:g.162722846C>G | GRCh37 |
| NC_000001.9:g.160989470C>G | NCBI36 |
| NG_016290.1:g.125619C>G | |
| NG_016290.2:g.126844C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367921.8:c.83-39C>G MANE Select | ENSP00000356898.3:n.83-39C>G | |
| ENST00000446985.6:c.83-39C>G | ENSP00000400309.2:n.83-39C>G | |
| ENST00000671979.1:c.83-39C>G | ENSP00000500822.1:n.83-39C>G | |
| ENST00000672207.1:n.469-39C>G | ||
| ENST00000367921.7:c.83-39C>G | ENSP00000356898.3:n.83-39C>G | |
| ENST00000367922.7:c.83-39C>G | ENSP00000356899.2:n.83-39C>G | |
| ENST00000415555.5:c.83-39C>G | ENSP00000391310.1:n.83-39C>G | |
| ENST00000446985.5:c.83-39C>G | ENSP00000400309.1:n.83-39C>G | |
| NM_001014796.1:c.83-39C>G | NP_001014796.1:n.83-39C>G | |
| NM_006182.2:c.83-39C>G | NP_006173.2:n.83-39C>G | |
| XM_006711344.2:c.83-39C>G | XP_006711407.1:n.83-39C>G | |
| XM_011509586.1:c.83-39C>G | XP_011507888.1:n.83-39C>G | |
| XM_011509587.1:c.83-39C>G | XP_011507889.1:n.83-39C>G | |
| XM_011509588.1:c.83-39C>G | XP_011507890.1:n.83-39C>G | |
| XM_011509589.1:c.83-39C>G | XP_011507891.1:n.83-39C>G | |
| NM_001014796.2:c.83-39C>G | NP_001014796.1:n.83-39C>G | |
| NM_001354982.1:c.83-39C>G | NP_001341911.1:n.83-39C>G | |
| NM_001354983.1:c.83-39C>G | NP_001341912.1:n.83-39C>G | |
| NM_006182.3:c.83-39C>G | NP_006173.2:n.83-39C>G | |
| XM_011509587.2:c.83-39C>G | XP_011507889.1:n.83-39C>G | |
| XM_011509588.3:c.83-39C>G | XP_011507890.1:n.83-39C>G | |
| NM_006182.4:c.83-39C>G MANE Select | NP_006173.2:n.83-39C>G | |
| NM_001014796.3:c.83-39C>G | NP_001014796.1:n.83-39C>G | |
| NM_001354982.2:c.83-39C>G | NP_001341911.1:n.83-39C>G | |
| NM_001354983.2:c.83-39C>G | NP_001341912.1:n.83-39C>G |