ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88067946C>T , CM000666.2:g.88067946C>T | GRCh38 |
| NC_000004.11:g.88989098C>T , CM000666.1:g.88989098C>T | GRCh37 |
| NC_000004.10:g.89208122C>T | NCBI36 |
| NG_008604.1:g.65279C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.2407C>T MANE Select | ENSP00000237596.2:p.Arg803Ter | |
| ENST00000237596.6:c.2407C>T | ENSP00000237596.2:p.Arg803Ter | |
| ENST00000502363.1:c.661C>T | ENSP00000425289.1:p.Arg221Ter | |
| ENST00000508588.5:c.661C>T | ENSP00000427131.1:p.Arg221Ter | |
| ENST00000511337.5:n.659C>T | ||
| ENST00000512858.1:n.885C>T | ||
| NM_000297.3:c.2407C>T | NP_000288.1:p.Arg803Ter | |
| XM_011532028.1:c.2182C>T | XP_011530330.1:p.Arg728Ter | |
| XM_011532029.1:c.1687C>T | XP_011530331.1:p.Arg563Ter | |
| XM_011532030.1:c.1567C>T | XP_011530332.1:p.Arg523Ter | |
| NR_156488.1:n.2373C>T | ||
| XM_011532028.2:c.2182C>T | XP_011530330.1:p.Arg728Ter | |
| XM_011532030.2:c.1567C>T | XP_011530332.1:p.Arg523Ter | |
| NM_000297.4:c.2407C>T MANE Select | NP_000288.1:p.Arg803Ter | |
| NR_156488.2:n.2385C>T |