Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21845336A>C , CM000685.2:g.21845336A>C | GRCh38 |
| NC_000023.10:g.21863454A>C , CM000685.1:g.21863454A>C | GRCh37 |
| NC_000023.9:g.21773375A>C | NCBI36 |
| NG_012797.1:g.10799A>C | |
| NG_012797.2:g.10799A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379484.10:c.390A>C MANE Select | ENSP00000368798.5:p.Ser130= | |
| ENST00000365779.2:c.390A>C | ENSP00000368796.1:p.Ser130= | |
| ENST00000379484.9:c.390A>C | ENSP00000368798.5:p.Ser130= | |
| ENST00000465888.1:n.489A>C | ||
| NM_015884.3:c.390A>C | NP_056968.1:p.Ser130= | |
| NM_015884.4:c.390A>C MANE Select | NP_056968.1:p.Ser130= |