Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215799057T= , CM000663.2:g.215799057T= | GRCh38 |
| NC_000001.10:g.215972399T= , CM000663.1:g.215972399T= | GRCh37 |
| NC_000001.9:g.214039022T= | NCBI36 |
| NG_009497.1:g.629340A= | |
| NG_009497.2:g.629392A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.9808A= MANE Select | ENSP00000305941.3:p.Arg3270= | |
| ENST00000674083.1:c.9808A= | ENSP00000501296.1:p.Arg3270= | |
| ENST00000307340.7:c.9808A= | ENSP00000305941.3:p.Arg3270= | |
| NM_206933.2:c.9808A= | NP_996816.2:p.Arg3270= | |
| NM_206933.3:c.9808A= | NP_996816.2:p.Arg3270= | |
| NM_206933.4:c.9808A= MANE Select | NP_996816.3:p.Arg3270= |