Linked Data
dbSNP Id:
rs1278736990
gnomAD v2:
1-57422487-A-G
gnomAD v3:
1-56956814-A-G
gnomAD v4:
1-56956814-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.56956814A>G , CM000663.2:g.56956814A>G | GRCh38 |
| NC_000001.10:g.57422487A>G , CM000663.1:g.57422487A>G | GRCh37 |
| NC_000001.9:g.57195075A>G | NCBI36 |
| NG_007285.1:g.14202T>C , LRG_31:g.14202T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000468990.2:c.*187T>C | ENSP00000512215.1:n.*187T>C | |
| ENST00000494324.2:c.*451T>C | ENSP00000512216.1:n.*451T>C | |
| ENST00000695842.1:c.346T>C | ENSP00000512214.1:p.Cys116Arg | |
| ENST00000695843.1:c.*187T>C | ENSP00000512217.1:n.*187T>C | |
| ENST00000696144.1:c.346T>C | ENSP00000512436.1:p.Cys116Arg | |
| ENST00000696164.1:c.346T>C | ENSP00000512454.1:p.Cys116Arg | |
| ENST00000696165.1:c.*187T>C | ENSP00000512455.1:n.*187T>C | |
| ENST00000696166.1:c.*187T>C | ENSP00000512456.1:n.*187T>C | |
| ENST00000371237.9:c.346T>C MANE Select | ENSP00000360281.4:p.Cys116Arg | |
| ENST00000371237.8:c.346T>C | ENSP00000360281.4:p.Cys116Arg | |
| ENST00000535057.5:c.160T>C | ENSP00000440113.1:p.Cys54Arg | |
| ENST00000543257.5:c.190T>C | ENSP00000442548.1:p.Cys64Arg | |
| NM_000066.3:c.346T>C | NP_000057.2:p.Cys116Arg | |
| NM_001278543.1:c.190T>C | NP_001265472.1:p.Cys64Arg | |
| NM_001278544.1:c.160T>C | NP_001265473.1:p.Cys54Arg | |
| XM_017002235.1:c.346T>C | XP_016857724.1:p.Cys116Arg | |
| XR_001737397.1:n.446T>C | ||
| NM_000066.4:c.346T>C MANE Select | NP_000057.3:p.Cys116Arg | |
| NM_001278543.2:c.190T>C | NP_001265472.2:p.Cys64Arg | |
| NM_001278544.2:c.160T>C | NP_001265473.2:p.Cys54Arg |