Revel Score:
ENST00000367429 (MANE Select)
0.664
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747269T>G , CM000663.2:g.196747269T>G | GRCh38 |
| NC_000001.10:g.196716399T>G , CM000663.1:g.196716399T>G | GRCh37 |
| NC_000001.9:g.194983022T>G | NCBI36 |
| NG_007259.1:g.100259T>G , LRG_47:g.100259T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.4680T>G | ||
| ENST00000695970.1:c.3478T>G | ENSP00000512297.1:p.Cys1160Gly | |
| ENST00000695971.1:c.3631T>G | ENSP00000512298.1:p.Cys1211Gly | |
| ENST00000695972.1:c.*729T>G | ENSP00000512299.1:n.*729T>G | |
| ENST00000695973.1:c.*2016T>G | ENSP00000512300.1:n.*2016T>G | |
| ENST00000695974.1:c.3475T>G | ENSP00000512301.1:p.Cys1159Gly | |
| ENST00000695975.1:c.*1779T>G | ENSP00000512302.1:n.*1779T>G | |
| ENST00000695976.1:c.3463T>G | ENSP00000512303.1:p.Cys1155Gly | |
| ENST00000695981.1:c.3580+72T>G | ENSP00000512306.1:n.3580+72T>G | |
| ENST00000695984.1:c.1660T>G | ENSP00000512309.1:p.Cys554Gly | |
| ENST00000695986.1:c.*3303T>G | ENSP00000512311.1:n.*3303T>G | |
| ENST00000695990.1:n.686T>G | ||
| ENST00000696026.1:c.*1934T>G | ENSP00000512335.1:n.*1934T>G | |
| ENST00000696027.1:c.3646T>G | ENSP00000512336.1:p.Cys1216Gly | |
| ENST00000696028.1:c.3580T>G | ENSP00000512337.1:p.Cys1194Gly | |
| ENST00000696029.1:c.3646T>G | ENSP00000512338.1:p.Cys1216Gly | |
| ENST00000696031.1:c.*3170T>G | ENSP00000512340.1:n.*3170T>G | |
| ENST00000696032.1:c.3580+72T>G | ENSP00000512341.1:n.3580+72T>G | |
| ENST00000696033.1:c.1160-32528T>G | ENSP00000512342.1:n.1160-32528T>G | |
| ENST00000367429.9:c.3652T>G MANE Select | ENSP00000356399.4:p.Cys1218Gly | |
| ENST00000367429.8:c.3652T>G | ENSP00000356399.4:p.Cys1218Gly | |
| ENST00000466229.5:n.6750T>G | ||
| NM_000186.3:c.3652T>G , LRG_47t1:c.3652T>G | NP_000177.2:p.Cys1218Gly | |
| XR_001737134.2:n.3838T>G | ||
| NM_000186.4:c.3652T>G MANE Select | NP_000177.2:p.Cys1218Gly |