Revel Score:
ENST00000310917
0.134
ENST00000344408 (MANE Select)
0.134
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5563021G>C , CM000666.2:g.5563021G>C | GRCh38 |
| NC_000004.11:g.5564748G>C , CM000666.1:g.5564748G>C | GRCh37 |
| NC_000004.10:g.5615649G>C | NCBI36 |
| NG_015821.1:g.151528C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.3754C>G MANE Select | ENSP00000342144.5:p.Leu1252Val | |
| ENST00000310917.6:c.3514C>G | ENSP00000311683.2:p.Leu1172Val | |
| ENST00000344408.9:c.3754C>G | ENSP00000342144.5:p.Leu1252Val | |
| ENST00000475313.5:c.3419+2237C>G | ENSP00000431981.1:n.3419+2237C>G | |
| ENST00000509670.1:c.*2147C>G | ENSP00000423876.1:n.*2147C>G | |
| NM_001166136.1:c.3514C>G | NP_001159608.1:p.Leu1172Val | |
| NM_147127.4:c.3754C>G | NP_667338.3:p.Leu1252Val | |
| XM_011513392.1:c.3763C>G | XP_011511694.1:p.Leu1255Val | |
| XM_011513393.1:c.3668+2237C>G | XP_011511695.1:n.3668+2237C>G | |
| XM_011513394.1:c.3523C>G | XP_011511696.1:p.Leu1175Val | |
| XM_017007736.1:c.3514C>G | XP_016863225.1:p.Leu1172Val | |
| XM_017007737.1:c.3514C>G | XP_016863226.1:p.Leu1172Val | |
| XM_017007739.1:c.2074C>G | XP_016863228.1:p.Leu692Val | |
| XM_024453893.1:c.2074C>G | XP_024309661.1:p.Leu692Val | |
| XR_001741141.1:n.3604C>G | ||
| NM_147127.5:c.3754C>G MANE Select | NP_667338.3:p.Leu1252Val | |
| NM_001166136.2:c.3514C>G | NP_001159608.1:p.Leu1172Val |