Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30737343C>A , CM000678.2:g.30737343C>A | GRCh38 |
| NC_000016.9:g.30748664C>A , CM000678.1:g.30748664C>A | GRCh37 |
| NC_000016.8:g.30656165C>A | NCBI36 |
| NG_032135.1:g.43203C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411466.7:c.7303C>A | ENSP00000405186.3:p.Arg2435= | |
| ENST00000704023.1:c.1583C>A | ||
| ENST00000706321.1:c.7303C>A | ENSP00000516346.1:p.Arg2435= | |
| ENST00000262518.9:c.7303C>A MANE Select | ENSP00000262518.4:p.Arg2435= | |
| ENST00000262518.8:c.7303C>A | ENSP00000262518.4:p.Arg2435= | |
| ENST00000380361.7:c.6772C>A | ENSP00000369719.3:p.Arg2258= | |
| ENST00000395059.6:c.6526C>A | ENSP00000378499.3:p.Arg2176= | |
| NM_006662.2:c.7303C>A | NP_006653.2:p.Arg2435= | |
| NM_006662.3:c.7303C>A MANE Select | NP_006653.2:p.Arg2435= |