Revel Score:
ENST00000377028 (MANE Select)
0.890
ENST00000446125
0.890
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.94479080C>A , CM000675.2:g.94479080C>A | GRCh38 |
| NC_000013.10:g.95131334C>A , CM000675.1:g.95131334C>A | GRCh37 |
| NC_000013.9:g.93929335C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377028.10:c.176G>T MANE Select | ENSP00000366227.4:p.Gly59Val | |
| ENST00000377028.9:c.176G>T | ENSP00000366227.4:p.Gly59Val | |
| ENST00000446125.1:c.176G>T | ENSP00000392762.1:p.Gly59Val | |
| ENST00000472871.1:n.590G>T | ||
| NM_001129889.1:c.176G>T | NP_001123361.1:p.Gly59Val | |
| NM_001922.3:c.176G>T | NP_001913.2:p.Gly59Val | |
| XM_011521049.1:c.107-10035G>T | XP_011519351.1:n.107-10035G>T | |
| XM_011521050.1:c.107-10035G>T | XP_011519352.1:n.107-10035G>T | |
| XR_931610.1:n.608G>T | ||
| NM_001129889.2:c.176G>T | NP_001123361.1:p.Gly59Val | |
| NM_001322182.1:c.-338-12422G>T | NP_001309111.1:n.-338-12422G>T | |
| NM_001322183.1:c.-339+10297G>T | NP_001309112.1:n.-339+10297G>T | |
| NM_001322184.1:c.-638-10035G>T | NP_001309113.1:n.-638-10035G>T | |
| NM_001322185.1:c.-638-10035G>T | NP_001309114.1:n.-638-10035G>T | |
| NM_001322186.1:c.107-10035G>T | NP_001309115.1:n.107-10035G>T | |
| NM_001922.4:c.176G>T | NP_001913.2:p.Gly59Val | |
| XM_011521049.2:c.107-10035G>T | XP_011519351.1:n.107-10035G>T | |
| XM_017020401.2:c.176G>T | XP_016875890.1:p.Gly59Val | |
| XM_024449328.1:c.-638-10035G>T | XP_024305096.1:n.-638-10035G>T | |
| XR_002957452.1:n.413G>T | ||
| NM_001922.5:c.176G>T MANE Select | NP_001913.2:p.Gly59Val | |
| NM_001322182.2:c.-338-12422G>T | NP_001309111.1:n.-338-12422G>T | |
| NM_001322183.2:c.-339+10297G>T | NP_001309112.1:n.-339+10297G>T | |
| NM_001322184.2:c.-638-10035G>T | NP_001309113.1:n.-638-10035G>T | |
| NM_001322185.2:c.-638-10035G>T | NP_001309114.1:n.-638-10035G>T | |
| NM_001322186.2:c.107-10035G>T | NP_001309115.1:n.107-10035G>T | |
| NM_001129889.3:c.176G>T | NP_001123361.1:p.Gly59Val |