Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17811986G= , CM000681.2:g.17811986G= | GRCh38 |
| NC_000019.9:g.17922795G= , CM000681.1:g.17922795G= | GRCh37 |
| NC_000019.8:g.17783795G= | NCBI36 |
| NG_028981.1:g.21877G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014256.4:c.983G= MANE Select | NP_055071.2:p.Arg328= |
| ENST00000318683.7:c.983G= MANE Select | ENSP00000321874.5:p.Arg328= |
| NM_014256.3:c.983G= | NP_055071.2:p.Arg328= |
| ENST00000318683.6:c.983G= | ENSP00000321874.5:p.Arg328= |
| ENST00000595387.1:c.983G= | ENSP00000472638.1:p.Arg328= |
| XM_011527626.1:c.983G= | XP_011525928.1:p.Arg328= |
| XM_011527626.2:c.983G= | XP_011525928.1:p.Arg328= |
| XM_011527627.1:c.983G= | XP_011525929.1:p.Arg328= |