Revel Score:
ENST00000371741 (MANE Select)
0.935
ENST00000538812
0.935
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.49374625C>T , CM000682.2:g.49374625C>T | GRCh38 |
| NC_000020.10:g.47991162C>T , CM000682.1:g.47991162C>T | GRCh37 |
| NC_000020.9:g.47424569C>T | NCBI36 |
| NG_041781.1:g.113020G>A | |
| NG_041781.2:g.113020G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371741.6:c.935G>A MANE Select | ENSP00000360806.3:p.Arg312His | |
| ENST00000635878.1:c.97-75242G>A | ENSP00000489908.1:n.97-75242G>A | |
| ENST00000637341.1:n.206+42601C>T | ||
| ENST00000371741.5:c.935G>A | ENSP00000360806.3:p.Arg312His | |
| ENST00000635465.1:c.935G>A | ENSP00000489193.1:p.Arg312His | |
| NM_004975.2:c.935G>A | NP_004966.1:p.Arg312His | |
| XM_006723784.2:c.935G>A | XP_006723847.1:p.Arg312His | |
| XM_011528799.1:c.935G>A | XP_011527101.1:p.Arg312His | |
| NM_004975.3:c.935G>A | NP_004966.1:p.Arg312His | |
| XM_006723784.3:c.935G>A | XP_006723847.1:p.Arg312His | |
| XM_011528799.2:c.935G>A | XP_011527101.1:p.Arg312His | |
| XR_001754659.1:n.156+42601C>T | ||
| NM_004975.4:c.935G>A MANE Select | NP_004966.1:p.Arg312His |