Revel Score:
ENST00000373631 (MANE Select)
0.775
ENST00000373629
0.775
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.123376950G>C , CM000671.2:g.123376950G>C | GRCh38 |
| NC_000009.11:g.126139229G>C , CM000671.1:g.126139229G>C | GRCh37 |
| NC_000009.10:g.125179050G>C | NCBI36 |
| NG_051311.1:g.27886G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373631.8:c.3746G>C MANE Select | ENSP00000362734.3:p.Arg1249Pro | |
| ENST00000373631.7:c.3746G>C | ENSP00000362734.3:p.Arg1249Pro | |
| ENST00000460253.1:c.2750G>C | ENSP00000435279.1:p.Arg917Pro | |
| NM_173689.6:c.3746G>C | NP_775960.4:p.Arg1249Pro | |
| NR_104603.1:n.2860G>C | ||
| XM_005251934.1:c.2750G>C | XP_005251991.1:p.Arg917Pro | |
| XM_011518556.1:c.3719G>C | XP_011516858.1:p.Arg1240Pro | |
| XM_011518557.1:c.3551G>C | XP_011516859.1:p.Arg1184Pro | |
| XM_011518558.1:c.3551G>C | XP_011516860.1:p.Arg1184Pro | |
| XM_005251934.3:c.2750G>C | XP_005251991.1:p.Arg917Pro | |
| XM_011518556.3:c.3719G>C | XP_011516858.1:p.Arg1240Pro | |
| XM_011518557.3:c.3551G>C | XP_011516859.1:p.Arg1184Pro | |
| XM_011518558.3:c.3551G>C | XP_011516860.1:p.Arg1184Pro | |
| NM_173689.7:c.3746G>C MANE Select | NP_775960.4:p.Arg1249Pro | |
| NR_104603.2:n.2860G>C |