ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88046712C>T , CM000666.2:g.88046712C>T | GRCh38 |
| NC_000004.11:g.88967864C>T , CM000666.1:g.88967864C>T | GRCh37 |
| NC_000004.10:g.89186888C>T | NCBI36 |
| NG_008604.1:g.44045C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.1390C>T MANE Select | ENSP00000237596.2:p.Arg464Ter | |
| ENST00000237596.6:c.1390C>T | ENSP00000237596.2:p.Arg464Ter | |
| ENST00000508588.5:c.-199+3255C>T | ENSP00000427131.1:n.-199+3255C>T | |
| NM_000297.3:c.1390C>T | NP_000288.1:p.Arg464Ter | |
| XM_011532028.1:c.1165C>T | XP_011530330.1:p.Arg389Ter | |
| XM_011532029.1:c.670C>T | XP_011530331.1:p.Arg224Ter | |
| XM_011532030.1:c.550C>T | XP_011530332.1:p.Arg184Ter | |
| XR_244632.2:n.1485C>T | ||
| NR_156488.1:n.1477C>T | ||
| XM_011532028.2:c.1165C>T | XP_011530330.1:p.Arg389Ter | |
| XM_011532030.2:c.550C>T | XP_011530332.1:p.Arg184Ter | |
| NM_000297.4:c.1390C>T MANE Select | NP_000288.1:p.Arg464Ter | |
| NR_156488.2:n.1489C>T |