Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42704468T>C , CM000668.2:g.42704468T>C | GRCh38 |
| NC_000006.11:g.42672206T>C , CM000668.1:g.42672206T>C | GRCh37 |
| NC_000006.10:g.42780184T>C | NCBI36 |
| NG_009176.1:g.23153A>G | |
| NG_009176.2:g.23153A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000322.5:c.725A>G MANE Select | NP_000313.2:p.Glu242Gly |
| ENST00000230381.7:c.725A>G MANE Select | ENSP00000230381.5:p.Glu242Gly |
| NM_000322.4:c.725A>G | NP_000313.2:p.Glu242Gly |
| ENST00000230381.6:c.725A>G | ENSP00000230381.5:p.Glu242Gly |
| XR_427834.2:n.1380A>G | |
| XR_427834.4:n.1430A>G | |
| XR_926295.3:n.1612A>G |