Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86643755T>C , CM000670.2:g.86643755T>C | GRCh38 |
| NC_000008.10:g.87655983T>C , CM000670.1:g.87655983T>C | GRCh37 |
| NC_000008.9:g.87725099T>C | NCBI36 |
| NG_016980.1:g.104921A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.1174A>G MANE Select | ENSP00000316605.5:p.Asn392Asp | |
| ENST00000681546.1:n.994A>G | ||
| ENST00000681746.1:c.1174A>G | ENSP00000505959.1:p.Asn392Asp | |
| ENST00000320005.5:c.1174A>G | ENSP00000316605.5:p.Asn392Asp | |
| NM_019098.4:c.1174A>G | NP_061971.3:p.Asn392Asp | |
| XM_011517138.1:c.760A>G | XP_011515440.1:p.Asn254Asp | |
| XM_011517138.2:c.760A>G | XP_011515440.1:p.Asn254Asp | |
| NM_019098.5:c.1174A>G MANE Select | NP_061971.3:p.Asn392Asp |