Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28843101C>T , CM000678.2:g.28843101C>T | GRCh38 |
| NC_000016.9:g.28854422C>T , CM000678.1:g.28854422C>T | GRCh37 |
| NC_000016.8:g.28761923C>T | NCBI36 |
| NG_008964.1:g.8308G>A | |
| NG_029706.2:g.1502C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003321.5:c.1242G>A MANE Select | NP_003312.3:p.Arg414= |
| ENST00000313511.8:c.1242G>A MANE Select | ENSP00000322439.3:p.Arg414= |
| NM_001365360.1:c.1158G>A | NP_001352289.1:p.Arg386= |
| NM_001365360.2:c.1158G>A | NP_001352289.1:p.Arg386= |
| NM_003321.4:c.1242G>A | NP_003312.3:p.Arg414= |
| ENST00000313511.7:c.1242G>A | ENSP00000322439.3:p.Arg414= |
| ENST00000569217.1:n.551G>A | |
| XM_011545928.1:c.1158G>A | XP_011544230.1:p.Arg386= |