Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3118964T>C , CM000681.2:g.3118964T>C | GRCh38 |
| NC_000019.9:g.3118962T>C , CM000681.1:g.3118962T>C | GRCh37 |
| NC_000019.8:g.3069962T>C | NCBI36 |
| NG_033852.2:g.29555T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000078429.9:c.646T>C MANE Select | ENSP00000078429.3:p.Trp216Arg | |
| ENST00000078429.8:c.646T>C | ENSP00000078429.3:p.Trp216Arg | |
| ENST00000586180.1:n.165T>C | ||
| ENST00000587636.1:c.192T>C | ||
| ENST00000590534.1:n.1815T>C | ||
| ENST00000591301.1:n.152T>C | ||
| NM_002067.4:c.646T>C | NP_002058.2:p.Trp216Arg | |
| NM_002067.5:c.646T>C MANE Select | NP_002058.2:p.Trp216Arg |