Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30221625T>C , CM000679.2:g.30221625T>C | GRCh38 |
| NC_000017.10:g.28548643T>C , CM000679.1:g.28548643T>C | GRCh37 |
| NC_000017.9:g.25572769T>C | NCBI36 |
| NG_011747.2:g.19312A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650711.1:c.334A>G MANE Select | ENSP00000498537.1:p.Asn112Asp | |
| ENST00000261707.7:c.334A>G | ENSP00000261707.3:p.Asn112Asp | |
| ENST00000394821.2:c.334A>G | ENSP00000378298.2:p.Asn112Asp | |
| ENST00000401766.6:c.334A>G | ENSP00000385822.2:p.Asn112Asp | |
| NM_001045.5:c.334A>G | NP_001036.1:p.Asn112Asp | |
| NM_001045.6:c.334A>G MANE Select | NP_001036.1:p.Asn112Asp |