Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436715G>C , CM000678.2:g.67436715G>C | GRCh38 |
| NC_000016.9:g.67470618G>C , CM000678.1:g.67470618G>C | GRCh37 |
| NC_000016.8:g.66028119G>C | NCBI36 |
| NG_011482.1:g.49472C>G | |
| NG_016549.1:g.10583G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.930G>C MANE Select | ENSP00000316786.5:p.Ser310= | |
| ENST00000326152.5:c.930G>C | ENSP00000316786.5:p.Ser310= | |
| NM_000196.3:c.930G>C | NP_000187.3:p.Ser310= | |
| NM_000196.4:c.930G>C MANE Select | NP_000187.3:p.Ser310= |