Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42704432A>T , CM000668.2:g.42704432A>T | GRCh38 |
| NC_000006.11:g.42672170A>T , CM000668.1:g.42672170A>T | GRCh37 |
| NC_000006.10:g.42780148A>T | NCBI36 |
| NG_009176.1:g.23189T>A | |
| NG_009176.2:g.23189T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000322.5:c.761T>A MANE Select | NP_000313.2:p.Leu254Gln |
| ENST00000230381.7:c.761T>A MANE Select | ENSP00000230381.5:p.Leu254Gln |
| NM_000322.4:c.761T>A | NP_000313.2:p.Leu254Gln |
| ENST00000230381.6:c.761T>A | ENSP00000230381.5:p.Leu254Gln |
| XR_427834.2:n.1416T>A | |
| XR_427834.4:n.1466T>A | |
| XR_926295.3:n.1648T>A |