Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271311C= , CM000668.2:g.31271311C= | GRCh38 |
| NC_000006.11:g.31239088C= , CM000668.1:g.31239088C= | GRCh37 |
| NC_000006.10:g.31347067C= | NCBI36 |
| NG_029422.2:g.5821G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.381G= MANE Select | ENSP00000365402.5:p.Leu127= | |
| ENST00000376228.9:c.381G= | ENSP00000365402.5:p.Leu127= | |
| ENST00000376237.8:c.364G= | ENSP00000365412.4:p.Gly122= | |
| ENST00000383329.7:c.381G= | ENSP00000372819.3:p.Leu127= | |
| ENST00000415537.1:c.379G= | ||
| ENST00000484378.1:n.650G= | ||
| ENST00000487245.5:n.740G= | ||
| ENST00000495835.1:n.570G= | ||
| NM_002117.5:c.381G= | NP_002108.4:p.Leu127= | |
| NM_002117.6:c.381G= MANE Select | NP_002108.4:p.Leu127= |