Revel Score:
ENST00000520113 (MANE Select)
0.567
ENST00000369538
0.567
ENST00000353928
0.567
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114688633G>C , CM000663.2:g.114688633G>C | GRCh38 |
| NC_000001.10:g.115231254G>C , CM000663.1:g.115231254G>C | GRCh37 |
| NC_000001.9:g.115032777G>C | NCBI36 |
| NG_008012.1:g.11923C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.131C>G | ENSP00000358551.4:p.Pro44Arg | |
| ENST00000520113.7:c.143C>G MANE Select | ENSP00000430075.3:p.Pro48Arg | |
| ENST00000637080.1:c.146C>G | ENSP00000489753.1:p.Pro49Arg | |
| ENST00000369538.3:c.230C>G | ENSP00000358551.3:p.Pro77Arg | |
| ENST00000520113.6:c.242C>G | ENSP00000430075.2:p.Pro81Arg | |
| NM_000036.2:c.242C>G | NP_000027.2:p.Pro81Arg | |
| NM_001172626.1:c.230C>G | NP_001166097.1:p.Pro77Arg | |
| NM_000036.3:c.143C>G MANE Select | NP_000027.3:p.Pro48Arg | |
| NM_001172626.2:c.131C>G | NP_001166097.2:p.Pro44Arg |