Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110498303C>G , CM000672.2:g.110498303C>G | GRCh38 |
| NC_000010.10:g.112258061C>G , CM000672.1:g.112258061C>G | GRCh37 |
| NC_000010.9:g.112248051C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369583.4:c.182C>G MANE Select | ENSP00000358596.3:p.Ser61Trp | |
| ENST00000369583.3:c.182C>G | ENSP00000358596.3:p.Ser61Trp | |
| NM_004419.3:c.182C>G | NP_004410.3:p.Ser61Trp | |
| NM_004419.4:c.182C>G MANE Select | NP_004410.3:p.Ser61Trp |