Revel Score:
ENST00000268070 (MANE Select)
0.137
ENST00000378898
0.137
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.100132008G>C , CM000677.2:g.100132008G>C | GRCh38 |
| NC_000015.9:g.100672213G>C , CM000677.1:g.100672213G>C | GRCh37 |
| NC_000015.8:g.98489736G>C | NCBI36 |
| NG_016287.1:g.214971C>G | |
| NG_016287.2:g.214971C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268070.9:c.1720C>G MANE Select | ENSP00000268070.4:p.Pro574Ala | |
| ENST00000568565.2:c.1720C>G | ENSP00000456161.2:p.Pro574Ala | |
| ENST00000268070.8:c.1720C>G | ENSP00000268070.4:p.Pro574Ala | |
| ENST00000378898.8:n.1401C>G | ||
| NM_139057.2:c.1720C>G | NP_620688.2:p.Pro574Ala | |
| XM_005254872.2:c.1720C>G | XP_005254929.1:p.Pro574Ala | |
| XM_011521312.1:c.1720C>G | XP_011519614.1:p.Pro574Ala | |
| NM_139057.3:c.1720C>G | NP_620688.2:p.Pro574Ala | |
| XM_005254872.3:c.1720C>G | XP_005254929.1:p.Pro574Ala | |
| XM_011521312.2:c.1720C>G | XP_011519614.1:p.Pro574Ala | |
| XM_017021973.2:c.1852C>G | XP_016877462.1:p.Pro618Ala | |
| XM_017021974.1:c.1852C>G | XP_016877463.1:p.Pro618Ala | |
| XM_017021975.1:c.1852C>G | XP_016877464.1:p.Pro618Ala | |
| XM_017021976.1:c.1123C>G | XP_016877465.1:p.Pro375Ala | |
| XM_017021977.1:c.1852C>G | XP_016877466.1:p.Pro618Ala | |
| XM_017021978.1:c.754C>G | XP_016877467.1:p.Pro252Ala | |
| XM_017021979.1:c.532C>G | XP_016877468.1:p.Pro178Ala | |
| XM_017021980.1:c.532C>G | XP_016877469.1:p.Pro178Ala | |
| XM_017021981.1:c.1852C>G | XP_016877470.1:p.Pro618Ala | |
| XM_017021982.1:c.241C>G | XP_016877471.1:p.Pro81Ala | |
| XM_017021983.1:c.27-14995C>G | XP_016877472.1:n.27-14995C>G | |
| XM_017021984.1:c.991C>G | XP_016877473.1:p.Pro331Ala | |
| XR_001751118.1:n.2874C>G | ||
| XR_001751119.1:n.2874C>G | ||
| XR_001751120.1:n.2874C>G | ||
| NM_139057.4:c.1720C>G MANE Select | NP_620688.2:p.Pro574Ala |