Revel Score:
ENST00000315757 (MANE Select)
0.294
ENST00000423218
0.294
ENST00000535491
0.294
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68325238T>G , CM000677.2:g.68325238T>G | GRCh38 |
| NC_000015.9:g.68617576T>G , CM000677.1:g.68617576T>G | GRCh37 |
| NC_000015.8:g.66404630T>G | NCBI36 |
| NG_046911.1:g.111923A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315757.9:c.2215A>C MANE Select | ENSP00000327290.7:p.Thr739Pro | |
| ENST00000315757.8:c.2215A>C | ENSP00000327290.7:p.Thr739Pro | |
| ENST00000423218.6:c.2215A>C | ENSP00000403392.2:p.Thr739Pro | |
| NM_001004439.1:c.2215A>C | NP_001004439.1:p.Thr739Pro | |
| XM_005254228.2:c.1909A>C | XP_005254285.1:p.Thr637Pro | |
| XM_011521363.1:c.2008A>C | XP_011519665.1:p.Thr670Pro | |
| XM_005254228.3:c.1909A>C | XP_005254285.1:p.Thr637Pro | |
| XM_011521363.2:c.2008A>C | XP_011519665.1:p.Thr670Pro | |
| NM_001004439.2:c.2215A>C MANE Select | NP_001004439.1:p.Thr739Pro |