Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.46837108G>C , CM000685.2:g.46837108G>C | GRCh38 |
| NC_000023.10:g.46696543G>C , CM000685.1:g.46696543G>C | GRCh37 |
| NC_000023.9:g.46581487G>C | NCBI36 |
| NG_009107.1:g.5197G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006915.3:c.8G>C MANE Select | NP_008846.2:p.Cys3Ser |
| ENST00000218340.4:c.8G>C MANE Select | ENSP00000218340.3:p.Cys3Ser |
| NM_006915.2:c.8G>C | NP_008846.2:p.Cys3Ser |
| ENST00000218340.3:c.8G>C | ENSP00000218340.3:p.Cys3Ser |