Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42704555C>G , CM000668.2:g.42704555C>G | GRCh38 |
| NC_000006.11:g.42672293C>G , CM000668.1:g.42672293C>G | GRCh37 |
| NC_000006.10:g.42780271C>G | NCBI36 |
| NG_009176.1:g.23066G>C | |
| NG_009176.2:g.23066G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000322.5:c.638G>C MANE Select | NP_000313.2:p.Cys213Ser |
| ENST00000230381.7:c.638G>C MANE Select | ENSP00000230381.5:p.Cys213Ser |
| NM_000322.4:c.638G>C | NP_000313.2:p.Cys213Ser |
| ENST00000230381.6:c.638G>C | ENSP00000230381.5:p.Cys213Ser |
| XR_427834.2:n.1293G>C | |
| XR_427834.4:n.1343G>C | |
| XR_926295.1:n.1475G>C | |
| XR_926295.3:n.1525G>C |