Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30737397G= , CM000678.2:g.30737397G= | GRCh38 |
| NC_000016.9:g.30748718G= , CM000678.1:g.30748718G= | GRCh37 |
| NC_000016.8:g.30656219G= | NCBI36 |
| NG_032135.1:g.43257G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411466.7:c.7357G= | ENSP00000405186.3:p.Ala2453= | |
| ENST00000704023.1:c.1593+44G= | ||
| ENST00000706321.1:c.7357G= | ENSP00000516346.1:p.Ala2453= | |
| ENST00000262518.9:c.7357G= MANE Select | ENSP00000262518.4:p.Ala2453= | |
| ENST00000262518.8:c.7357G= | ENSP00000262518.4:p.Ala2453= | |
| ENST00000380361.7:c.6826G= | ENSP00000369719.3:p.Ala2276= | |
| ENST00000395059.6:c.6580G= | ENSP00000378499.3:p.Ala2194= | |
| NM_006662.2:c.7357G= | NP_006653.2:p.Ala2453= | |
| NM_006662.3:c.7357G= MANE Select | NP_006653.2:p.Ala2453= |