Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24205035A>C , CM000668.2:g.24205035A>C | GRCh38 |
| NC_000006.11:g.24205263A>C , CM000668.1:g.24205263A>C | GRCh37 |
| NC_000006.10:g.24313242A>C | NCBI36 |
| NG_012829.1:g.158018T>G | |
| NG_012829.2:g.183258T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.990T>G MANE Select | ENSP00000367715.3:p.Asp330Glu | |
| ENST00000378450.6:c.249T>G | ENSP00000367711.3:p.Asp83Glu | |
| ENST00000378454.7:c.990T>G | ENSP00000367715.3:p.Asp330Glu | |
| NM_001195610.1:c.990T>G | NP_001182539.1:p.Asp330Glu | |
| NM_016356.4:c.990T>G | NP_057440.2:p.Asp330Glu | |
| NM_016356.5:c.990T>G MANE Select | NP_057440.2:p.Asp330Glu | |
| NM_001195610.2:c.990T>G | NP_001182539.1:p.Asp330Glu |