Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74259766T>G , CM000676.2:g.74259766T>G | GRCh38 |
| NC_000014.8:g.74726469T>G , CM000676.1:g.74726469T>G | GRCh37 |
| NC_000014.7:g.73796222T>G | NCBI36 |
| NG_013092.1:g.25295T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261980.3:c.744T>G MANE Select | ENSP00000261980.2:p.Cys248Trp | |
| ENST00000261980.2:c.744T>G | ENSP00000261980.2:p.Cys248Trp | |
| NM_182894.2:c.744T>G | NP_878314.1:p.Cys248Trp | |
| XM_011536719.1:c.744T>G | XP_011535021.1:p.Cys248Trp | |
| NM_182894.3:c.744T>G MANE Select | NP_878314.1:p.Cys248Trp |