Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20242546C= , CM000684.2:g.20242546C= | GRCh38 |
| NC_000022.10:g.20230069C= , CM000684.1:g.20230069C= | GRCh37 |
| NC_000022.9:g.18610069C= | NCBI36 |
| NG_012176.1:g.30748G= | |
| NG_012176.2:g.30748G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_023004.6:c.587G= MANE Select | NP_075380.1:p.Arg196= |
| ENST00000043402.8:c.587G= MANE Select | ENSP00000043402.7:p.Arg196= |
| NM_023004.5:c.587G= | NP_075380.1:p.Arg196= |
| ENST00000043402.7:c.587G= | ENSP00000043402.7:p.Arg196= |
| ENST00000416372.5:c.646G= | |
| ENST00000425986.1:c.844G= |