Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6018629G= , CM000674.2:g.6018629G= | GRCh38 |
| NC_000012.11:g.6127795G= , CM000674.1:g.6127795G= | GRCh37 |
| NC_000012.10:g.5998056G= | NCBI36 |
| NG_009072.1:g.111042C= | |
| NG_009072.2:g.111042C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000552.5:c.4789C= MANE Select | NP_000543.3:p.Arg1597= |
| ENST00000261405.10:c.4789C= MANE Select | ENSP00000261405.5:p.Arg1597= |
| NM_000552.3:c.4789C= | NP_000543.2:p.Arg1597= |
| NM_000552.4:c.4789C= | NP_000543.2:p.Arg1597= |
| ENST00000261405.9:c.4789C= | ENSP00000261405.5:p.Arg1597= |
| ENST00000538635.5:n.421-24695C= |