Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42697498C>T , CM000668.2:g.42697498C>T | GRCh38 |
| NC_000006.11:g.42665236C>T , CM000668.1:g.42665236C>T | GRCh37 |
| NC_000006.10:g.42773214C>T | NCBI36 |
| NG_009176.1:g.30123G>A | |
| NG_009176.2:g.30123G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000322.5:c.*797G>A MANE Select | NP_000313.2:n.*797G>A |
| ENST00000230381.7:c.*797G>A MANE Select | ENSP00000230381.5:n.*797G>A |
| NM_000322.4:c.*797G>A | NP_000313.2:n.*797G>A |
| ENST00000230381.6:c.*797G>A | ENSP00000230381.5:n.*797G>A |
| XR_926295.3:n.2725G>A |