Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232525249G= , CM000664.2:g.232525249G= | GRCh38 |
| NC_000002.11:g.233389959G= , CM000664.1:g.233389959G= | GRCh37 |
| NC_000002.10:g.233098203G= | NCBI36 |
| NG_008028.1:g.4038G= | |
| NG_031969.1:g.9787G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001195129.2:c.1555G= MANE Select | NP_001182058.1:p.Gly519= |
| ENST00000617714.2:c.1555G= MANE Select | ENSP00000479745.1:p.Gly519= |
| NM_001195129.1:c.1555G= | NP_001182058.1:p.Gly519= |
| NM_001369848.1:c.1558G= | NP_001356777.1:p.Gly520= |
| ENST00000449534.6:c.1558G= | ENSP00000473410.1:p.Gly520= |
| ENST00000617714.1:c.1555G= | ENSP00000479745.1:p.Gly519= |