Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8086117C>G , CM000679.2:g.8086117C>G | GRCh38 |
| NC_000017.10:g.7989435C>G , CM000679.1:g.7989435C>G | GRCh37 |
| NC_000017.9:g.7930160C>G | NCBI36 |
| NG_007099.1:g.6587G>C | |
| NG_007099.2:g.6600G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.251G>C MANE Select | ENSP00000497784.1:p.Cys84Ser | |
| ENST00000319144.4:c.251G>C | ENSP00000315167.4:p.Cys84Ser | |
| NM_001139.2:c.251G>C | NP_001130.1:p.Cys84Ser | |
| NM_001139.3:c.251G>C MANE Select | NP_001130.1:p.Cys84Ser |