Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18122531A>C , CM000668.2:g.18122531A>C | GRCh38 |
| NC_000006.11:g.18122762A>C , CM000668.1:g.18122762A>C | GRCh37 |
| NC_000006.10:g.18230741A>C | NCBI36 |
| NG_016750.1:g.5090T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_198586.3:c.76T>G MANE Select | NP_940988.2:p.Cys26Gly |
| ENST00000340650.6:c.76T>G MANE Select | ENSP00000345464.3:p.Cys26Gly |
| NM_198586.2:c.76T>G | NP_940988.2:p.Cys26Gly |
| ENST00000340650.4:c.76T>G | ENSP00000345464.3:p.Cys26Gly |