Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.125055885T>C , CM000671.2:g.125055885T>C | GRCh38 |
| NC_000009.11:g.127818164T>C , CM000671.1:g.127818164T>C | GRCh37 |
| NC_000009.10:g.126857985T>C | NCBI36 |
| NG_016620.1:g.92675A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336505.11:c.221A>G MANE Select | ENSP00000336756.6:p.Asn74Ser | |
| ENST00000336505.10:c.221A>G | ENSP00000336756.5:p.Asn74Ser | |
| ENST00000373549.8:c.290A>G | ENSP00000362650.4:p.Asn97Ser | |
| ENST00000477186.5:c.221A>G | ENSP00000419576.1:p.Asn74Ser | |
| NM_001144877.2:c.221A>G | NP_001138349.1:p.Asn74Ser | |
| NM_173690.4:c.290A>G | NP_775961.2:p.Asn97Ser | |
| XR_929767.1:n.349A>G | ||
| XR_929768.1:n.349A>G | ||
| NM_001144877.3:c.221A>G MANE Select | NP_001138349.1:p.Asn74Ser | |
| NM_173690.5:c.290A>G | NP_775961.2:p.Asn97Ser |