Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128945873C= , CM000671.2:g.128945873C= | GRCh38 |
| NC_000009.11:g.131708152C= , CM000671.1:g.131708152C= | GRCh37 |
| NC_000009.10:g.130747973C= | NCBI36 |
| NG_017009.1:g.6861G= , LRG_744:g.6861G= | |
| NG_033111.1:g.3181C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372586.4:c.1431G= MANE Select | ENSP00000361667.3:p.Met477= | |
| ENST00000372586.3:c.1431G= | ENSP00000361667.3:p.Met477= | |
| ENST00000482796.1:c.39-3316C= | ENSP00000417556.2:n.39-3316C= | |
| NM_014908.3:c.1431G= , LRG_744t1:c.1431G= | NP_055723.1:p.Met477= | |
| NM_014908.4:c.1431G= MANE Select | NP_055723.1:p.Met477= |