Revel Score:
ENST00000426033
0.280
ENST00000325239 (MANE Select)
0.280
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.48817351G>C , CM000672.2:g.48817351G>C | GRCh38 |
| NC_000010.10:g.50025396G>C , CM000672.1:g.50025396G>C | GRCh37 |
| NC_000010.9:g.49695402G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325239.12:c.5447G>C MANE Select | ENSP00000320563.5:p.Arg1816Pro | |
| ENST00000325239.11:c.5447G>C | ENSP00000320563.5:p.Arg1816Pro | |
| ENST00000325239.9:c.5447G>C | ENSP00000320563.5:p.Arg1816Pro | |
| ENST00000374161.7:c.1086G>C | ||
| NM_020945.1:c.5447G>C | NP_065996.1:p.Arg1816Pro | |
| XM_005270004.2:c.5447G>C | XP_005270061.1:p.Arg1816Pro | |
| XM_011539986.1:c.5447G>C | XP_011538288.1:p.Arg1816Pro | |
| XM_011539987.1:c.5447G>C | XP_011538289.1:p.Arg1816Pro | |
| XM_011539988.1:c.5447G>C | XP_011538290.1:p.Arg1816Pro | |
| XM_011539989.1:c.5567G>C | XP_011538291.1:p.Arg1856Pro | |
| XM_011539990.1:c.5567G>C | XP_011538292.1:p.Arg1856Pro | |
| XM_011539991.1:c.5567G>C | XP_011538293.1:p.Arg1856Pro | |
| XM_005270004.3:c.5447G>C | XP_005270061.1:p.Arg1816Pro | |
| XM_011539986.3:c.5567G>C | XP_011538288.2:p.Arg1856Pro | |
| XM_011539987.2:c.5567G>C | XP_011538289.2:p.Arg1856Pro | |
| XM_011539988.2:c.5447G>C | XP_011538290.1:p.Arg1816Pro | |
| XM_011539990.3:c.5567G>C | XP_011538292.1:p.Arg1856Pro | |
| XM_011539991.3:c.5567G>C | XP_011538293.1:p.Arg1856Pro | |
| XM_017016463.1:c.5447G>C | XP_016871952.1:p.Arg1816Pro | |
| XM_017016464.1:c.1871G>C | XP_016871953.1:p.Arg624Pro | |
| NM_020945.2:c.5447G>C | NP_065996.1:p.Arg1816Pro | |
| NM_001394531.1:c.5447G>C MANE Select | NP_001381460.1:p.Arg1816Pro |