ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42704501G>C , CM000668.2:g.42704501G>C | GRCh38 |
| NC_000006.11:g.42672239G>C , CM000668.1:g.42672239G>C | GRCh37 |
| NC_000006.10:g.42780217G>C | NCBI36 |
| NG_009176.1:g.23120C>G | |
| NG_009176.2:g.23120C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.692C>G MANE Select | ENSP00000230381.5:p.Ser231Ter | |
| ENST00000230381.6:c.692C>G | ENSP00000230381.5:p.Ser231Ter | |
| NM_000322.4:c.692C>G | NP_000313.2:p.Ser231Ter | |
| XR_427834.2:n.1347C>G | ||
| XR_427834.4:n.1397C>G | ||
| XR_926295.3:n.1579C>G | ||
| NM_000322.5:c.692C>G MANE Select | NP_000313.2:p.Ser231Ter |