Linked Data
gnomAD v4:
1-196747271-T-C
COSMIC:
COSM4571008
MyVariant Identifiers:
chr1:g.196716401T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747271T>C , CM000663.2:g.196747271T>C | GRCh38 |
| NC_000001.10:g.196716401T>C , CM000663.1:g.196716401T>C | GRCh37 |
| NC_000001.9:g.194983024T>C | NCBI36 |
| NG_007259.1:g.100261T>C , LRG_47:g.100261T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470918.2:n.4682T>C | ||
| ENST00000695970.1:c.3480T>C | ENSP00000512297.1:p.Cys1160= | |
| ENST00000695971.1:c.3633T>C | ENSP00000512298.1:p.Cys1211= | |
| ENST00000695972.1:c.*731T>C | ENSP00000512299.1:n.*731T>C | |
| ENST00000695973.1:c.*2018T>C | ENSP00000512300.1:n.*2018T>C | |
| ENST00000695974.1:c.3477T>C | ENSP00000512301.1:p.Cys1159= | |
| ENST00000695975.1:c.*1781T>C | ENSP00000512302.1:n.*1781T>C | |
| ENST00000695976.1:c.3465T>C | ENSP00000512303.1:p.Cys1155= | |
| ENST00000695981.1:c.3580+74T>C | ENSP00000512306.1:n.3580+74T>C | |
| ENST00000695984.1:c.1662T>C | ENSP00000512309.1:p.Cys554= | |
| ENST00000695986.1:c.*3305T>C | ENSP00000512311.1:n.*3305T>C | |
| ENST00000695990.1:n.688T>C | ||
| ENST00000696026.1:c.*1936T>C | ENSP00000512335.1:n.*1936T>C | |
| ENST00000696027.1:c.3648T>C | ENSP00000512336.1:p.Cys1216= | |
| ENST00000696028.1:c.3582T>C | ENSP00000512337.1:p.Cys1194= | |
| ENST00000696029.1:c.3648T>C | ENSP00000512338.1:p.Cys1216= | |
| ENST00000696031.1:c.*3172T>C | ENSP00000512340.1:n.*3172T>C | |
| ENST00000696032.1:c.3580+74T>C | ENSP00000512341.1:n.3580+74T>C | |
| ENST00000696033.1:c.1160-32526T>C | ENSP00000512342.1:n.1160-32526T>C | |
| ENST00000367429.9:c.3654T>C MANE Select | ENSP00000356399.4:p.Cys1218= | |
| ENST00000367429.8:c.3654T>C | ENSP00000356399.4:p.Cys1218= | |
| ENST00000466229.5:n.6752T>C | ||
| NM_000186.3:c.3654T>C , LRG_47t1:c.3654T>C | NP_000177.2:p.Cys1218= | |
| XR_001737134.2:n.3840T>C | ||
| NM_000186.4:c.3654T>C MANE Select | NP_000177.2:p.Cys1218= |