Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612159T>C , CM000679.2:g.41612159T>C | GRCh38 |
| NC_000017.10:g.39768411T>C , CM000679.1:g.39768411T>C | GRCh37 |
| NC_000017.9:g.37021937T>C | NCBI36 |
| NG_008301.1:g.5669A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.530A>G MANE Select | ENSP00000301653.3:p.Lys177Arg | |
| ENST00000301653.8:c.530A>G | ENSP00000301653.3:p.Lys177Arg | |
| ENST00000588319.1:n.607A>G | ||
| ENST00000593067.1:c.-185A>G | ENSP00000467124.1:n.-185A>G | |
| NM_005557.3:c.530A>G | NP_005548.2:p.Lys177Arg | |
| NM_005557.4:c.530A>G MANE Select | NP_005548.2:p.Lys177Arg |