Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128946055G= , CM000671.2:g.128946055G= | GRCh38 |
| NC_000009.11:g.131708334G= , CM000671.1:g.131708334G= | GRCh37 |
| NC_000009.10:g.130748155G= | NCBI36 |
| NG_017009.1:g.6679C= , LRG_744:g.6679C= | |
| NG_033111.1:g.3363G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372586.4:c.1249C= MANE Select | ENSP00000361667.3:p.Leu417= | |
| ENST00000372586.3:c.1249C= | ENSP00000361667.3:p.Leu417= | |
| ENST00000482796.1:c.39-3134G= | ENSP00000417556.2:n.39-3134G= | |
| NM_014908.3:c.1249C= , LRG_744t1:c.1249C= | NP_055723.1:p.Leu417= | |
| NM_014908.4:c.1249C= MANE Select | NP_055723.1:p.Leu417= |