dbSNP:
Revel Score:
ENST00000221283 (MANE Select)
0.826
ENST00000414284
0.826
ENST00000441779
0.826
ENST00000543902
0.826
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7646322C>G , CM000681.2:g.7646322C>G | GRCh38 |
| NC_000019.9:g.7711208C>G , CM000681.1:g.7711208C>G | GRCh37 |
| NC_000019.8:g.7617208C>G | NCBI36 |
| NG_016709.1:g.14218C>G , LRG_165:g.14218C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595866.2:c.*1384C>G | ENSP00000469553.2:n.*1384C>G | |
| ENST00000600702.6:c.1430C>G | ENSP00000471737.2:p.Pro477Arg | |
| ENST00000698368.1:c.*1533C>G | ENSP00000513686.1:n.*1533C>G | |
| ENST00000698369.1:n.2580C>G | ||
| ENST00000698371.1:c.958C>G | ENSP00000513688.1:n.958C>G | |
| ENST00000221283.10:c.1430C>G MANE Select | ENSP00000221283.4:p.Pro477Arg | |
| ENST00000221283.9:c.1430C>G | ENSP00000221283.4:p.Pro477Arg | |
| ENST00000414284.6:c.1421C>G | ENSP00000409471.1:p.Pro474Arg | |
| ENST00000441779.6:c.1463C>G | ENSP00000413606.2:p.Pro488Arg | |
| ENST00000593854.5:n.588C>G | ||
| ENST00000595800.1:n.424C>G | ||
| ENST00000597068.5:c.*178C>G | ENSP00000471327.1:n.*178C>G | |
| ENST00000599400.1:c.431C>G | ||
| ENST00000599737.5:c.1160-840C>G | ENSP00000471585.1:n.1160-840C>G | |
| ENST00000600702.5:c.513C>G | ||
| ENST00000601061.1:n.185C>G | ||
| ENST00000602355.1:c.35C>G | ENSP00000473406.1:p.Pro12Arg | |
| ENST00000622853.4:c.1430C>G | ENSP00000480468.1:p.Pro477Arg | |
| NM_001127396.2:c.1421C>G | NP_001120868.1:p.Pro474Arg | |
| NM_001272034.1:c.1463C>G | NP_001258963.1:p.Pro488Arg | |
| NM_006949.3:c.1430C>G | NP_008880.2:p.Pro477Arg | |
| NR_073560.1:n.1454C>G | ||
| XR_001753741.2:n.1500C>G | ||
| NM_006949.4:c.1430C>G MANE Select | NP_008880.2:p.Pro477Arg | |
| NM_001127396.3:c.1421C>G | NP_001120868.1:p.Pro474Arg | |
| NM_001272034.2:c.1463C>G | NP_001258963.1:p.Pro488Arg | |
| NR_073560.2:n.1445C>G |