Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32475012C>A , CM000684.2:g.32475012C>A | GRCh38 |
| NC_000022.10:g.32870999C>A , CM000684.1:g.32870999C>A | GRCh37 |
| NC_000022.9:g.31200999C>A | NCBI36 |
| NG_016001.1:g.5293C>A | |
| NG_016001.2:g.5293C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.12:c.10C>A MANE Select | ENSP00000266087.7:p.Arg4= | |
| ENST00000266087.11:c.10C>A | ENSP00000266087.7:p.Arg4= | |
| ENST00000420700.5:c.10C>A | ENSP00000406155.1:p.Arg4= | |
| ENST00000425028.5:c.10C>A | ENSP00000395823.1:p.Arg4= | |
| NM_012179.3:c.10C>A | NP_036311.3:p.Arg4= | |
| XM_011530106.1:c.-164C>A | XP_011528408.1:n.-164C>A | |
| XM_024452207.1:c.-181C>A | XP_024307975.1:n.-181C>A | |
| NM_012179.4:c.10C>A MANE Select | NP_036311.3:p.Arg4= |