Linked Data
gnomAD v4:
11-61865671-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61865671C>A , CM000673.2:g.61865671C>A | GRCh38 |
| NC_000011.9:g.61633143C>A , CM000673.1:g.61633143C>A | GRCh37 |
| NC_000011.8:g.61389719C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278840.9:c.1317C>A MANE Select | ENSP00000278840.4:p.Asp439Glu | |
| ENST00000257261.10:c.1251C>A | ENSP00000257261.6:p.Asp417Glu | |
| ENST00000278840.8:c.1317C>A | ENSP00000278840.4:p.Asp439Glu | |
| ENST00000522056.5:c.1224C>A | ENSP00000429500.1:p.Asp408Glu | |
| ENST00000523235.5:n.3397C>A | ||
| NM_001281501.1:c.1251C>A | NP_001268430.1:p.Asp417Glu | |
| NM_001281502.1:c.1224C>A | NP_001268431.1:p.Asp408Glu | |
| NM_004265.3:c.1317C>A | NP_004256.1:p.Asp439Glu | |
| NM_004265.4:c.1317C>A MANE Select | NP_004256.1:p.Asp439Glu |