Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49130814C>G , CM000665.2:g.49130814C>G | GRCh38 |
| NC_000003.11:g.49168247C>G , CM000665.1:g.49168247C>G | GRCh37 |
| NC_000003.10:g.49143251C>G | NCBI36 |
| NG_008094.1:g.7353G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.962G>C MANE Select | ENSP00000307156.4:p.Cys321Ser | |
| ENST00000305544.8:c.962G>C | ENSP00000307156.4:p.Cys321Ser | |
| ENST00000418109.5:c.962G>C | ENSP00000388325.1:p.Cys321Ser | |
| NM_002292.3:c.962G>C | NP_002283.3:p.Cys321Ser | |
| XM_005265127.3:c.962G>C | XP_005265184.1:p.Cys321Ser | |
| XM_005265127.4:c.962G>C | XP_005265184.1:p.Cys321Ser | |
| NM_002292.4:c.962G>C MANE Select | NP_002283.3:p.Cys321Ser |