Revel Score:
ENST00000392701 (MANE Select)
0.954
ENST00000409882
0.954
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165749801A>C , CM000664.2:g.165749801A>C | GRCh38 |
| NC_000002.11:g.166606311A>C , CM000664.1:g.166606311A>C | GRCh37 |
| NC_000002.10:g.166314557A>C | NCBI36 |
| NG_012069.1:g.49493T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392701.8:c.1720T>G MANE Select | ENSP00000376465.3:p.Cys574Gly | |
| ENST00000392701.7:c.1720T>G | ENSP00000376465.3:p.Cys574Gly | |
| ENST00000409882.5:c.934T>G | ENSP00000386955.1:p.Cys312Gly | |
| NM_004482.3:c.1720T>G | NP_004473.2:p.Cys574Gly | |
| XM_005246449.1:c.1720T>G | XP_005246506.1:p.Cys574Gly | |
| XM_011510929.1:c.1720T>G | XP_011509231.1:p.Cys574Gly | |
| XM_017003770.1:c.1720T>G | XP_016859259.1:p.Cys574Gly | |
| NM_004482.4:c.1720T>G MANE Select | NP_004473.2:p.Cys574Gly |