Revel Score:
ENST00000338581
0.691
ENST00000402415
0.691
ENST00000272371 (MANE Select)
0.691
gnomAD v2:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26460203C>G , CM000664.2:g.26460203C>G | GRCh38 |
| NC_000002.11:g.26683071C>G , CM000664.1:g.26683071C>G | GRCh37 |
| NC_000002.10:g.26536575C>G | NCBI36 |
| NG_009937.1:g.103496G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.5816G>C MANE Select | ENSP00000272371.2:p.Arg1939Pro | |
| ENST00000339598.8:c.3512+444G>C MANE Plus Clinical | ENSP00000344521.3:n.3512+444G>C | |
| ENST00000402415.8:c.3575G>C | ENSP00000383906.4:p.Arg1192Pro | |
| ENST00000272371.6:c.5816G>C | ENSP00000272371.2:p.Arg1939Pro | |
| ENST00000338581.10:c.3515G>C | ENSP00000345137.6:p.Arg1172Pro | |
| ENST00000339598.7:c.3512+444G>C | ENSP00000344521.3:n.3512+444G>C | |
| ENST00000402415.7:c.3746G>C | ENSP00000383906.3:p.Arg1249Pro | |
| ENST00000403946.7:c.5813+444G>C | ENSP00000385255.3:n.5813+444G>C | |
| NM_001287489.1:c.5813+444G>C | NP_001274418.1:n.5813+444G>C | |
| NM_004802.3:c.3515G>C | NP_004793.2:p.Arg1172Pro | |
| NM_194248.2:c.5816G>C | NP_919224.1:p.Arg1939Pro | |
| NM_194322.2:c.3746G>C | NP_919303.1:p.Arg1249Pro | |
| NM_194323.2:c.3512+444G>C | NP_919304.1:n.3512+444G>C | |
| XM_005264644.2:c.5798+444G>C | XP_005264701.1:n.5798+444G>C | |
| XM_011533185.1:c.5858+444G>C | XP_011531487.1:n.5858+444G>C | |
| XM_017005338.1:c.5756G>C | XP_016860827.1:p.Arg1919Pro | |
| NM_001287489.2:c.5813+444G>C | NP_001274418.1:n.5813+444G>C | |
| NM_004802.4:c.3515G>C | NP_004793.2:p.Arg1172Pro | |
| NM_194248.3:c.5816G>C MANE Select | NP_919224.1:p.Arg1939Pro | |
| NM_194322.3:c.3746G>C | NP_919303.1:p.Arg1249Pro | |
| NM_194323.3:c.3512+444G>C MANE Plus Clinical | NP_919304.1:n.3512+444G>C |