gnomAD v4:
Revel Score:
ENST00000345060 (MANE Select)
0.035
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966016G>A , CM000670.2:g.37966016G>A | GRCh38 |
| NC_000008.10:g.37823534G>A , CM000670.1:g.37823534G>A | GRCh37 |
| NC_000008.9:g.37942691G>A | NCBI36 |
| NG_011936.1:g.5651C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.454C>T MANE Select | ENSP00000343782.3:p.Arg152Cys | |
| ENST00000520341.2:n.582C>T | ||
| ENST00000345060.4:c.454C>T | ENSP00000343782.3:p.Arg152Cys | |
| ENST00000614635.1:c.454C>T | ENSP00000480325.1:p.Arg152Cys | |
| NM_000025.2:c.454C>T | NP_000016.1:p.Arg152Cys | |
| NM_000025.3:c.454C>T MANE Select | NP_000016.1:p.Arg152Cys |