Linked Data
gnomAD v4:
4-42962946-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42962946C>A , CM000666.2:g.42962946C>A | GRCh38 |
| NC_000004.11:g.42964963C>A , CM000666.1:g.42964963C>A | GRCh37 |
| NC_000004.10:g.42659720C>A | NCBI36 |
| NG_027718.1:g.74681C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399770.3:c.439C>A MANE Select | ENSP00000382670.2:p.Arg147Ser | |
| ENST00000399770.2:c.439C>A | ENSP00000382670.2:p.Arg147Ser | |
| NM_001080476.2:c.439C>A | NP_001073945.1:p.Arg147Ser | |
| XM_011513691.1:c.76C>A | XP_011511993.1:p.Arg26Ser | |
| NM_001080476.3:c.439C>A MANE Select | NP_001073945.1:p.Arg147Ser |