Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42704444C>G , CM000668.2:g.42704444C>G | GRCh38 |
| NC_000006.11:g.42672182C>G , CM000668.1:g.42672182C>G | GRCh37 |
| NC_000006.10:g.42780160C>G | NCBI36 |
| NG_009176.1:g.23177G>C | |
| NG_009176.2:g.23177G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000322.5:c.749G>C MANE Select | NP_000313.2:p.Cys250Ser |
| ENST00000230381.7:c.749G>C MANE Select | ENSP00000230381.5:p.Cys250Ser |
| NM_000322.4:c.749G>C | NP_000313.2:p.Cys250Ser |
| ENST00000230381.6:c.749G>C | ENSP00000230381.5:p.Cys250Ser |
| XR_427834.2:n.1404G>C | |
| XR_427834.4:n.1454G>C | |
| XR_926295.3:n.1636G>C |