Revel Score:
ENST00000310917
0.061
ENST00000344408 (MANE Select)
0.061
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5563018C>A , CM000666.2:g.5563018C>A | GRCh38 |
| NC_000004.11:g.5564745C>A , CM000666.1:g.5564745C>A | GRCh37 |
| NC_000004.10:g.5615646C>A | NCBI36 |
| NG_015821.1:g.151531G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.3757G>T MANE Select | ENSP00000342144.5:p.Ala1253Ser | |
| ENST00000310917.6:c.3517G>T | ENSP00000311683.2:p.Ala1173Ser | |
| ENST00000344408.9:c.3757G>T | ENSP00000342144.5:p.Ala1253Ser | |
| ENST00000475313.5:c.3419+2240G>T | ENSP00000431981.1:n.3419+2240G>T | |
| ENST00000509670.1:c.*2150G>T | ENSP00000423876.1:n.*2150G>T | |
| NM_001166136.1:c.3517G>T | NP_001159608.1:p.Ala1173Ser | |
| NM_147127.4:c.3757G>T | NP_667338.3:p.Ala1253Ser | |
| XM_011513392.1:c.3766G>T | XP_011511694.1:p.Ala1256Ser | |
| XM_011513393.1:c.3668+2240G>T | XP_011511695.1:n.3668+2240G>T | |
| XM_011513394.1:c.3526G>T | XP_011511696.1:p.Ala1176Ser | |
| XM_017007736.1:c.3517G>T | XP_016863225.1:p.Ala1173Ser | |
| XM_017007737.1:c.3517G>T | XP_016863226.1:p.Ala1173Ser | |
| XM_017007739.1:c.2077G>T | XP_016863228.1:p.Ala693Ser | |
| XM_024453893.1:c.2077G>T | XP_024309661.1:p.Ala693Ser | |
| XR_001741141.1:n.3607G>T | ||
| NM_147127.5:c.3757G>T MANE Select | NP_667338.3:p.Ala1253Ser | |
| NM_001166136.2:c.3517G>T | NP_001159608.1:p.Ala1173Ser |