Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64616213T= , CM000670.2:g.64616213T= | GRCh38 |
| NC_000008.10:g.65528770T= , CM000670.1:g.65528770T= | GRCh37 |
| NC_000008.9:g.65691324T= | NCBI36 |
| NG_008338.1:g.187579A= | |
| NG_008338.2:g.187579A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.328A= MANE Select | ENSP00000310721.3:p.Ser110= | |
| ENST00000310193.3:c.328A= | ENSP00000310721.3:p.Ser110= | |
| NM_004820.3:c.328A= | NP_004811.1:p.Ser110= | |
| NM_001324112.1:c.328A= | NP_001311041.1:p.Ser110= | |
| NM_004820.4:c.328A= | NP_004811.1:p.Ser110= | |
| XM_017014002.1:c.394A= | XP_016869491.1:p.Ser132= | |
| NM_004820.5:c.328A= MANE Select | NP_004811.1:p.Ser110= | |
| NM_001324112.2:c.328A= | NP_001311041.1:p.Ser110= |