Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188993450A= , CM000664.2:g.188993450A= | GRCh38 |
| NC_000002.11:g.189858176A= , CM000664.1:g.189858176A= | GRCh37 |
| NC_000002.10:g.189566421A= | NCBI36 |
| NG_007404.1:g.24078A= , LRG_3:g.24078A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.1050+510A= | ENSP00000415346.2:n.1050+510A= | |
| ENST00000304636.9:c.1140A= MANE Select | ENSP00000304408.4:p.Gln380= | |
| ENST00000304636.7:c.1140A= | ENSP00000304408.3:p.Gln380= | |
| ENST00000317840.9:c.1140A= | ENSP00000315243.6:p.Gln380= | |
| ENST00000450867.1:c.148+510A= | ||
| NM_000090.3:c.1140A= , LRG_3t1:c.1140A= | NP_000081.1:p.Gln380= | |
| NM_000090.4:c.1140A= MANE Select | NP_000081.2:p.Gln380= |