Revel Score:
ENST00000268070 (MANE Select)
0.395
ENST00000378898
0.395
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.100132105A>C , CM000677.2:g.100132105A>C | GRCh38 |
| NC_000015.9:g.100672310A>C , CM000677.1:g.100672310A>C | GRCh37 |
| NC_000015.8:g.98489833A>C | NCBI36 |
| NG_016287.1:g.214874T>G | |
| NG_016287.2:g.214874T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268070.9:c.1623T>G MANE Select | ENSP00000268070.4:p.His541Gln | |
| ENST00000568565.2:c.1623T>G | ENSP00000456161.2:p.His541Gln | |
| ENST00000268070.8:c.1623T>G | ENSP00000268070.4:p.His541Gln | |
| ENST00000378898.8:n.1304T>G | ||
| NM_139057.2:c.1623T>G | NP_620688.2:p.His541Gln | |
| XM_005254872.2:c.1623T>G | XP_005254929.1:p.His541Gln | |
| XM_011521312.1:c.1623T>G | XP_011519614.1:p.His541Gln | |
| NM_139057.3:c.1623T>G | NP_620688.2:p.His541Gln | |
| XM_005254872.3:c.1623T>G | XP_005254929.1:p.His541Gln | |
| XM_011521312.2:c.1623T>G | XP_011519614.1:p.His541Gln | |
| XM_017021973.2:c.1755T>G | XP_016877462.1:p.His585Gln | |
| XM_017021974.1:c.1755T>G | XP_016877463.1:p.His585Gln | |
| XM_017021975.1:c.1755T>G | XP_016877464.1:p.His585Gln | |
| XM_017021976.1:c.1026T>G | XP_016877465.1:p.His342Gln | |
| XM_017021977.1:c.1755T>G | XP_016877466.1:p.His585Gln | |
| XM_017021978.1:c.657T>G | XP_016877467.1:p.His219Gln | |
| XM_017021979.1:c.435T>G | XP_016877468.1:p.His145Gln | |
| XM_017021980.1:c.435T>G | XP_016877469.1:p.His145Gln | |
| XM_017021981.1:c.1755T>G | XP_016877470.1:p.His585Gln | |
| XM_017021982.1:c.144T>G | XP_016877471.1:p.His48Gln | |
| XM_017021983.1:c.27-15092T>G | XP_016877472.1:n.27-15092T>G | |
| XM_017021984.1:c.894T>G | XP_016877473.1:p.His298Gln | |
| XR_001751118.1:n.2777T>G | ||
| XR_001751119.1:n.2777T>G | ||
| XR_001751120.1:n.2777T>G | ||
| NM_139057.4:c.1623T>G MANE Select | NP_620688.2:p.His541Gln |