Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42696608G>A , CM000668.2:g.42696608G>A | GRCh38 |
| NC_000006.11:g.42664346G>A , CM000668.1:g.42664346G>A | GRCh37 |
| NC_000006.10:g.42772324G>A | NCBI36 |
| NG_009176.1:g.31013C>T | |
| NG_009176.2:g.31013C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000322.5:c.*1687C>T MANE Select | NP_000313.2:n.*1687C>T |
| ENST00000230381.7:c.*1687C>T MANE Select | ENSP00000230381.5:n.*1687C>T |
| NM_000322.4:c.*1687C>T | NP_000313.2:n.*1687C>T |
| ENST00000230381.6:c.*1687C>T | ENSP00000230381.5:n.*1687C>T |
| XR_926295.3:n.3615C>T |