Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18122171C>T , CM000668.2:g.18122171C>T | GRCh38 |
| NC_000006.11:g.18122402C>T , CM000668.1:g.18122402C>T | GRCh37 |
| NC_000006.10:g.18230381C>T | NCBI36 |
| NG_016750.1:g.5450G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340650.6:c.436G>A MANE Select | ENSP00000345464.3:p.Asp146Asn | |
| ENST00000340650.4:c.436G>A | ENSP00000345464.3:p.Asp146Asn | |
| NM_198586.2:c.436G>A | NP_940988.2:p.Asp146Asn | |
| NM_198586.3:c.436G>A MANE Select | NP_940988.2:p.Asp146Asn |