Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.29399284A>C , CM000685.2:g.29399284A>C | GRCh38 |
| NC_000023.10:g.29417401A>C , CM000685.1:g.29417401A>C | GRCh37 |
| NC_000023.9:g.29327322A>C | NCBI36 |
| NG_008292.1:g.816721A>C | |
| NG_008292.2:g.816721A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378993.6:c.679A>C MANE Select | ENSP00000368278.1:p.Arg227= | |
| ENST00000378993.5:c.679A>C | ENSP00000368278.1:p.Arg227= | |
| NM_014271.3:c.679A>C | NP_055086.1:p.Arg227= | |
| XM_005274441.1:c.679A>C | XP_005274498.1:p.Arg227= | |
| XM_011545445.1:c.679A>C | XP_011543747.1:p.Arg227= | |
| XM_017029240.1:c.679A>C | XP_016884729.1:p.Arg227= | |
| XM_017029241.1:c.301A>C | XP_016884730.1:p.Arg101= | |
| NM_014271.4:c.679A>C MANE Select | NP_055086.1:p.Arg227= |