Revel Score:
ENST00000374695 (MANE Select)
0.141
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21864961G>C , CM000663.2:g.21864961G>C | GRCh38 |
| NC_000001.10:g.22191454G>C , CM000663.1:g.22191454G>C | GRCh37 |
| NC_000001.9:g.22064041G>C | NCBI36 |
| NG_016740.1:g.77297C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.4508C>G MANE Select | ENSP00000363827.3:p.Ala1503Gly | |
| ENST00000374695.7:c.4508C>G | ENSP00000363827.3:p.Ala1503Gly | |
| NM_001291860.1:c.4511C>G | NP_001278789.1:p.Ala1504Gly | |
| NM_005529.6:c.4508C>G | NP_005520.4:p.Ala1503Gly | |
| XM_006710594.2:c.5054C>G | XP_006710657.1:p.Ala1685Gly | |
| XM_006710595.2:c.5006C>G | XP_006710658.1:p.Ala1669Gly | |
| XM_006710596.2:c.4985C>G | XP_006710659.1:p.Ala1662Gly | |
| XM_006710597.2:c.4508C>G | XP_006710660.1:p.Ala1503Gly | |
| XM_011541317.1:c.5057C>G | XP_011539619.1:p.Ala1686Gly | |
| XM_011541318.1:c.5057C>G | XP_011539620.1:p.Ala1686Gly | |
| XM_011541319.1:c.5057C>G | XP_011539621.1:p.Ala1686Gly | |
| XM_011541320.1:c.5057C>G | XP_011539622.1:p.Ala1686Gly | |
| XM_011541321.1:c.4562C>G | XP_011539623.1:p.Ala1521Gly | |
| XM_011541322.1:c.5057C>G | XP_011539624.1:p.Ala1686Gly | |
| XM_011541318.2:c.5057C>G | XP_011539620.1:p.Ala1686Gly | |
| XM_017001120.1:c.4703C>G | XP_016856609.1:p.Ala1568Gly | |
| XM_017001121.1:c.4652C>G | XP_016856610.1:p.Ala1551Gly | |
| XM_017001122.1:c.4649C>G | XP_016856611.1:p.Ala1550Gly | |
| NM_005529.7:c.4508C>G MANE Select | NP_005520.4:p.Ala1503Gly | |
| NM_001291860.2:c.4511C>G | NP_001278789.1:p.Ala1504Gly |