dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.96318482A>T , CM000672.2:g.96318482A>T | GRCh38 |
| NC_000010.10:g.98078239A>T , CM000672.1:g.98078239A>T | GRCh37 |
| NC_000010.9:g.98068229A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371174.5:c.334A>T MANE Select | ENSP00000360216.2:p.Arg112Ter | |
| ENST00000371174.4:c.334A>T | ENSP00000360216.2:p.Arg112Ter | |
| ENST00000630152.1:c.334A>T | ENSP00000486733.1:p.Arg112Ter | |
| NM_001017520.1:c.334A>T | NP_001017520.1:p.Arg112Ter | |
| NM_004088.3:c.334A>T | NP_004079.3:p.Arg112Ter | |
| XM_011539420.1:c.334A>T | XP_011537722.1:p.Arg112Ter | |
| NM_004088.4:c.334A>T MANE Select | NP_004079.3:p.Arg112Ter | |
| NM_001017520.2:c.334A>T | NP_001017520.1:p.Arg112Ter |