Linked Data
dbSNP Id:
rs1485416673
gnomAD v2:
1-196716246-T-C
gnomAD v3:
1-196747116-T-C
gnomAD v4:
1-196747116-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747116T>C , CM000663.2:g.196747116T>C | GRCh38 |
| NC_000001.10:g.196716246T>C , CM000663.1:g.196716246T>C | GRCh37 |
| NC_000001.9:g.194982869T>C | NCBI36 |
| NG_007259.1:g.100106T>C , LRG_47:g.100106T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470918.2:n.4527T>C | ||
| ENST00000695970.1:c.3325T>C | ENSP00000512297.1:p.Cys1109Arg | |
| ENST00000695971.1:c.3478T>C | ENSP00000512298.1:p.Cys1160Arg | |
| ENST00000695972.1:c.*576T>C | ENSP00000512299.1:n.*576T>C | |
| ENST00000695973.1:c.*1863T>C | ENSP00000512300.1:n.*1863T>C | |
| ENST00000695974.1:c.3322T>C | ENSP00000512301.1:p.Cys1108Arg | |
| ENST00000695975.1:c.*1626T>C | ENSP00000512302.1:n.*1626T>C | |
| ENST00000695976.1:c.3310T>C | ENSP00000512303.1:p.Cys1104Arg | |
| ENST00000695981.1:c.3499T>C | ENSP00000512306.1:p.Cys1167Arg | |
| ENST00000695984.1:c.1507T>C | ENSP00000512309.1:p.Cys503Arg | |
| ENST00000695986.1:c.*3150T>C | ENSP00000512311.1:n.*3150T>C | |
| ENST00000695990.1:n.533T>C | ||
| ENST00000696026.1:c.*1781T>C | ENSP00000512335.1:n.*1781T>C | |
| ENST00000696027.1:c.3493T>C | ENSP00000512336.1:p.Cys1165Arg | |
| ENST00000696028.1:c.3427T>C | ENSP00000512337.1:p.Cys1143Arg | |
| ENST00000696029.1:c.3493T>C | ENSP00000512338.1:p.Cys1165Arg | |
| ENST00000696031.1:c.*3017T>C | ENSP00000512340.1:n.*3017T>C | |
| ENST00000696032.1:c.3499T>C | ENSP00000512341.1:p.Cys1167Arg | |
| ENST00000696033.1:c.1160-32681T>C | ENSP00000512342.1:n.1160-32681T>C | |
| ENST00000367429.9:c.3499T>C MANE Select | ENSP00000356399.4:p.Cys1167Arg | |
| ENST00000367429.8:c.3499T>C | ENSP00000356399.4:p.Cys1167Arg | |
| ENST00000466229.5:n.6597T>C | ||
| NM_000186.3:c.3499T>C , LRG_47t1:c.3499T>C | NP_000177.2:p.Cys1167Arg | |
| XR_001737134.2:n.3685T>C | ||
| NM_000186.4:c.3499T>C MANE Select | NP_000177.2:p.Cys1167Arg |