Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138584825G= , CM000669.2:g.138584825G= | GRCh38 |
| NC_000007.13:g.138269570G= , CM000669.1:g.138269570G= | GRCh37 |
| NC_000007.12:g.137920110G= | NCBI36 |
| NG_023286.1:g.129492G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015905.3:c.3027G= MANE Select | NP_056989.2:p.Arg1009= |
| ENST00000343526.9:c.3027G= MANE Select | ENSP00000340507.4:p.Arg1009= |
| NM_003852.3:c.2925G= | NP_003843.3:p.Arg975= |
| NM_003852.4:c.2925G= | NP_003843.3:p.Arg975= |
| NM_015905.2:c.3027G= | NP_056989.2:p.Arg1009= |
| ENST00000343526.8:c.3027G= | ENSP00000340507.4:p.Arg1009= |
| ENST00000415680.6:c.2925G= | ENSP00000390829.2:p.Arg975= |
| ENST00000620194.1:c.2913G= | ENSP00000484482.1:p.Arg971= |
| XM_024446981.1:c.2970G= | XP_024302749.1:p.Arg990= |