Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48528320T>C , CM000685.2:g.48528320T>C | GRCh38 |
| NC_000023.10:g.48386708T>C , CM000685.1:g.48386708T>C | GRCh37 |
| NC_000023.9:g.48271652T>C | NCBI36 |
| NG_007452.1:g.11545T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495186.6:c.556T>C MANE Select | ENSP00000417052.1:p.Trp186Arg | |
| ENST00000651615.1:c.469+1035T>C | ENSP00000498524.1:n.469+1035T>C | |
| ENST00000276096.10:n.514T>C | ||
| ENST00000495186.5:c.556T>C | ENSP00000417052.1:p.Trp186Arg | |
| ENST00000498425.1:n.677T>C | ||
| NM_006579.2:c.556T>C | NP_006570.1:p.Trp186Arg | |
| NM_006579.3:c.556T>C MANE Select | NP_006570.1:p.Trp186Arg |