Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130681545G>C , CM000671.2:g.130681545G>C | GRCh38 |
| NC_000009.11:g.133556932G>C , CM000671.1:g.133556932G>C | GRCh37 |
| NC_000009.10:g.132546753G>C | NCBI36 |
| NG_053081.1:g.21952G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021619.3:c.980G>C MANE Select | NP_067632.2:p.Ser327Thr |
| ENST00000253008.3:c.980G>C MANE Select | ENSP00000253008.2:p.Ser327Thr |
| NM_021619.2:c.980G>C | NP_067632.2:p.Ser327Thr |
| ENST00000253008.2:c.980G>C | ENSP00000253008.2:p.Ser327Thr |
| ENST00000676323.1:c.906+74G>C | ENSP00000502471.1:n.906+74G>C |