Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18121617C>T , CM000668.2:g.18121617C>T | GRCh38 |
| NC_000006.11:g.18121848C>T , CM000668.1:g.18121848C>T | GRCh37 |
| NC_000006.10:g.18229827C>T | NCBI36 |
| NG_016750.1:g.6004G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_198586.3:c.990G>A MANE Select | NP_940988.2:p.Gln330= |
| ENST00000340650.6:c.990G>A MANE Select | ENSP00000345464.3:p.Gln330= |
| NM_198586.2:c.990G>A | NP_940988.2:p.Gln330= |
| ENST00000340650.4:c.990G>A | ENSP00000345464.3:p.Gln330= |