Revel Score:
ENST00000338581
0.943
ENST00000402415
0.943
ENST00000272371 (MANE Select)
0.943
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26460059G>C , CM000664.2:g.26460059G>C | GRCh38 |
| NC_000002.11:g.26682927G>C , CM000664.1:g.26682927G>C | GRCh37 |
| NC_000002.10:g.26536431G>C | NCBI36 |
| NG_009937.1:g.103640C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.5960C>G MANE Select | ENSP00000272371.2:p.Pro1987Arg | |
| ENST00000339598.8:c.3512+588C>G MANE Plus Clinical | ENSP00000344521.3:n.3512+588C>G | |
| ENST00000402415.8:c.3719C>G | ENSP00000383906.4:p.Pro1240Arg | |
| ENST00000272371.6:c.5960C>G | ENSP00000272371.2:p.Pro1987Arg | |
| ENST00000338581.10:c.3659C>G | ENSP00000345137.6:p.Pro1220Arg | |
| ENST00000339598.7:c.3512+588C>G | ENSP00000344521.3:n.3512+588C>G | |
| ENST00000402415.7:c.3890C>G | ENSP00000383906.3:p.Pro1297Arg | |
| ENST00000403946.7:c.5813+588C>G | ENSP00000385255.3:n.5813+588C>G | |
| NM_001287489.1:c.5813+588C>G | NP_001274418.1:n.5813+588C>G | |
| NM_004802.3:c.3659C>G | NP_004793.2:p.Pro1220Arg | |
| NM_194248.2:c.5960C>G | NP_919224.1:p.Pro1987Arg | |
| NM_194322.2:c.3890C>G | NP_919303.1:p.Pro1297Arg | |
| NM_194323.2:c.3512+588C>G | NP_919304.1:n.3512+588C>G | |
| XM_005264644.2:c.5798+588C>G | XP_005264701.1:n.5798+588C>G | |
| XM_011533185.1:c.5858+588C>G | XP_011531487.1:n.5858+588C>G | |
| XM_017005338.1:c.5900C>G | XP_016860827.1:p.Pro1967Arg | |
| NM_001287489.2:c.5813+588C>G | NP_001274418.1:n.5813+588C>G | |
| NM_004802.4:c.3659C>G | NP_004793.2:p.Pro1220Arg | |
| NM_194248.3:c.5960C>G MANE Select | NP_919224.1:p.Pro1987Arg | |
| NM_194322.3:c.3890C>G | NP_919303.1:p.Pro1297Arg | |
| NM_194323.3:c.3512+588C>G MANE Plus Clinical | NP_919304.1:n.3512+588C>G |