Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271092C= , CM000668.2:g.31271092C= | GRCh38 |
| NC_000006.11:g.31238869C= , CM000668.1:g.31238869C= | GRCh37 |
| NC_000006.10:g.31346848C= | NCBI36 |
| NG_029422.2:g.6040G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.600G= MANE Select | ENSP00000365402.5:p.Lys200= | |
| ENST00000376228.9:c.600G= | ENSP00000365402.5:p.Lys200= | |
| ENST00000376237.8:c.*187G= | ENSP00000365412.4:n.*187G= | |
| ENST00000383329.7:c.600G= | ENSP00000372819.3:p.Lys200= | |
| ENST00000415537.1:c.598G= | ||
| ENST00000487245.5:n.959G= | ||
| ENST00000495835.1:n.789G= | ||
| NM_002117.5:c.600G= | NP_002108.4:p.Lys200= | |
| NM_002117.6:c.600G= MANE Select | NP_002108.4:p.Lys200= |